AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaGeographicals
Albinism, OculocutaneousAlbinismMonophenol MonooxygenaseHermanski-Pudlak SyndromeHypopigmentationEye ColorAlbinism, OcularMelanosomesNystagmus, PathologicSkin PigmentationMelanocytesMembrane Transport ProteinsPigmentationChediak-Higashi SyndromeElectronystagmographyCatechol OxidaseMelaninsHair ColorPuerto RicoPlatelet Storage Pool DeficiencyAdaptor Protein Complex beta SubunitsMutationPedigreeFolkloreIris DiseasesOxidoreductasesFrameshift MutationNystagmus, CongenitalDNA Mutational AnalysisMembrane GlycoproteinsPolymorphism, Single-Stranded ConformationalHomozygotePhenotypeMembrane ProteinsExons
Albinism, Oculocutaneous
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
Albinism
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Monophenol Monooxygenase
An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.
Hermanski-Pudlak Syndrome
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Hypopigmentation
A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Eye Color
Color of the iris.
Albinism, Ocular
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Melanosomes
Melanin-containing organelles found in melanocytes and melanophores.
Nystagmus, Pathologic
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Skin Pigmentation
Coloration of the skin.
Melanocytes
Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.
Membrane Transport Proteins
Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.
Pigmentation
Coloration or discoloration of a part by a pigment.
Chediak-Higashi Syndrome
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Electronystagmography
Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.
Catechol Oxidase
An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of copper-containing proteins that acts also on a variety of substituted catechols. EC 1.10.3.1.
Melanins
Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.
Hair Color
Color of hair or fur.
Puerto Rico
An island in the Greater Antilles in the West Indies. Its capital is San Juan. It is a self-governing commonwealth in union with the United States. It was discovered by Columbus in 1493 but no colonization was attempted until 1508. It belonged to Spain until ceded to the United States in 1898. It became a commonwealth with autonomy in internal affairs in 1952. Columbus named the island San Juan for St. John's Day, the Monday he arrived, and the bay Puerto Rico, rich harbor. The island became Puerto Rico officially in 1932. (From Webster's New Geographical Dictionary, 1988, p987 & Room, Brewer's Dictionary of Names, 1992, p436)
Platelet Storage Pool Deficiency
Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.
Adaptor Protein Complex beta Subunits
A family of large adaptin protein complex subunits of approximately 90-130 kDa in size.
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Folklore
The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.
Iris Diseases
Diseases, dysfunctions, or disorders of or located in the iris.
Oxidoreductases
The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)
Frameshift Mutation
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Nystagmus, Congenital
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
DNA Mutational Analysis
Biochemical identification of mutational changes in a nucleotide sequence.
Membrane Glycoproteins
Glycoproteins found on the membrane or surface of cells.
Polymorphism, Single-Stranded Conformational
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Homozygote
An individual in which both alleles at a given locus are identical.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Membrane Proteins
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Exons
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (1/138)

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the identification of two HPS patients with mutations in the beta 3A subunit of the heterotetrameric AP-3 complex. The patients' fibroblasts exhibit drastically reduced levels of AP-3 due to enhanced degradation of mutant beta 3A. The AP-3 deficiency results in increased surface expression of the lysosomal membrane proteins CD63, lamp-1, and lamp-2, but not of nonlysosomal proteins. These differential effects are consistent with the preferential interaction of the AP-3 mu 3A subunit with tyrosine-based signals involved in lysosomal targeting. Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery.  (+info)

Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. (2/138)

The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3 complex were altered in pearl platelets and other tissues. The beta3A subunit was undetectable in all pearl cells and tissues. Also, expression of other subunit proteins of the AP-3 complex was decreased. The subcellular distribution of the remaining AP-3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Genetically distinct mouse HPS models had normal expression of AP-3 subunits. These and related experiments strongly suggest that the AP-3 complex regulates the biogenesis/function of organelles of platelets and other cells and that abrogation of expression of the AP-3 complex leads to platelet SPD.  (+info)

Albinism: its implications for refractive development. (3/138)

PURPOSE: Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization. METHODS: Refractive, biometric, and visual acuity data were collected for a group of 25 albino individuals that included the following: 18 oculocutaneous (13 tyrosine positive, 5 tyrosine negative); 7 ocular (2 autosomal recessive, 5 sex-linked recessive). Their age range was 3 to 51 years. All exhibited horizontal pendular nystagmus. RESULTS: There were no statistically significant differences relating to albino subtype for any of the measured parameters. All the subjects had reduced visual acuity (mean: 0.90, logMAR) and overall, there was a bias toward hyperopia in their refractive errors (mean: + 1.07 D). However the refractive errors of the group covered a broad range (SD: 4.67 D) and included both high myopia and high hyperopia. An axial origin to the refractive errors is implied by the high correlation between refractive errors and axial lengths. Refractive astigmatism averaged 2.37 D and was consistently with-the-rule and highly correlated with corneal astigmatism, which was also with-the-rule. Meridional analysis of the refractive data indicated that the vertical meridian for hyperopic subjects was consistently nearer emmetropia compared to their horizontal meridian. Myopic subjects showed the opposite trend. CONCLUSIONS: The overall refractive profile of the subjects is consistent with emmetropization being impaired in albinism. However, the refractive errors of hyperopic subjects also can be explained in terms of "meridional emmetropization." The contrasting refractive profiles of myopic subjects may reflect operational constraints of the emmetropization process.  (+info)

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. (4/138)

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding tendency and a ceroid-lipofuscin lysosomal storage disease result from defects of multiple cytoplasmic organelles: melanosomes, platelet dense granules and lysosomes. The HPS polypeptide, a 700 amino acid protein which is unrelated to any known proteins, is likely to be involved in the biogenesis of these different organelles. Here, we show that HPS is a non-glycosylated, non-membrane protein which is a component of two distinct high molecular weight complexes. In non-melanotic cells the HPS protein is contained almost entirely in an approximately 200 kDa complex that is widely distributed throughout the cytosol. In melanotic cells the HPS protein is partitioned between this cytosolic complex and a >500 kDa complex that appears to consist of the approximately 200 kDa complex in association with membranous components. Subcellular fractionation, immunofluorescence and immunoelectron microscopy studies indicate that the membrane-associated HPS complex of melanotic cells is associated with tubulovesicular structures, small non-coated vesicles, and nascent and early-stage melanosomes. These findings suggest that the HPS complex is involved in the biogenesis of early melanosomes.  (+info)

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism. (5/138)

Tyrosinase is a melanocyte-specific enzyme critical for the synthesis of melanin, a process normally restricted to a post-Golgi compartment termed the melanosome. Loss-of-function mutations in tyrosinase are the cause of oculocutaneous albinism, demonstrating the importance of the enzyme in pigmentation. In the present study, we explored the possibility that trafficking of albino tyrosinase from the endoplasmic reticulum (ER) to the Golgi apparatus and beyond is disrupted. Toward this end, we analyzed the common albino mouse mutation Tyr(C85S), the frequent human albino substitution TYR(T373K), and the temperature-sensitive tyrosinase TYR(R402Q)/Tyr(H402A) found in humans and mice, respectively. Intracellular localization was monitored in albino melanocytes carrying the native mutation, as well as in melanocytes ectopically expressing green fluorescent protein-tagged tyrosinase. Enzymatic characterization of complex glycans and immunofluorescence colocalization with organelle-specific resident proteins established that all four mutations produced defective proteins that were retained in the ER. TYR(R402Q)/Tyr(H402A) Golgi processing and transport to melanosomes were promoted at the permissive temperature of 32 degrees C, but not at the nonpermissive 37 degrees C temperature. Furthermore, evidence of protein misfolding was demonstrated by the prolonged association of tyrosinase mutants with calnexin and calreticulin, known ER chaperones that play a key role in the quality-control processes of the secretory pathway. From these results we concluded that albinism, at least in part, is an ER retention disease.  (+info)

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. (6/138)

The dilute (d), leaden (ln), and ashen (ash) mutations provide a unique model system for studying vesicle transport in mammals. All three mutations produce a lightened coat color because of defects in pigment granule transport. In addition, all three mutations are suppressed by the semidominant dilute-suppressor (dsu), providing genetic evidence that these mutations function in the same or overlapping transport pathways. Previous studies showed that d encodes a major vesicle transport motor, myosin-VA, which is mutated in Griscelli syndrome patients. Here, using positional cloning and bacterial artificial chromosome rescue, we show that ash encodes Rab27a. Rab GTPases represent the largest branch of the p21 Ras superfamily and are recognized as key players in vesicular transport and organelle dynamics in eukaryotic cells. We also show that ash mice have platelet defects resulting in increased bleeding times and a reduction in the number of platelet dense granules. These defects have not been reported for d and ln mice. Collectively, our studies identify Rab27a as a critical gene for organelle-specific protein trafficking in melanocytes and platelets and suggest that Rab27a functions in both MyoVa dependent and independent pathways.  (+info)

Lysosome-related organelles. (7/138)

Lysosomes are membrane-bound cytoplasmic organelles involved in intracellular protein degradation. They contain an assortment of soluble acid-dependent hydrolases and a set of highly glycosylated integral membrane proteins. Most of the properties of lysosomes are shared with a group of cell type-specific compartments referred to as 'lysosome-related organelles', which include melanosomes, lytic granules, MHC class II compartments, platelet-dense granules, basophil granules, azurophil granules, and Drosophila pigment granules. In addition to lysosomal proteins, these organelles contain cell type-specific components that are responsible for their specialized functions. Abnormalities in both lysosomes and lysosome-related organelles have been observed in human genetic diseases such as the Chediak-Higashi and Hermansky-Pudlak syndromes, further demonstrating the close relationship between these organelles. Identification of genes mutated in these human diseases, as well as in mouse and Drosophila: pigmentation mutants, is beginning to shed light on the molecular machinery involved in the biogenesis of lysosomes and lysosome-related organelles.  (+info)

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. (8/138)

We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on one chromosome and a (TG) deletion at codon 244/245 on the second chromosome. The existence of the microdeletion suggested that a gene responsible for leucodystrophy was located in the vicinity of the TYR gene. A combination of a test of hemizygosity and contig mapping studies allowed us to map the gene within a 0.6 cM region flanked by microsatellite markers D11S1780 and D11S931.  (+info)

Oculocutaneous albinism type 2 | definition of Oculocutaneous albinism type 2 by Medical dictionaryOculocutaneous albinism type 2 | definition of Oculocutaneous albinism type 2 by Medical dictionary
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https://medical-dictionary.thefreedictionary.com/Oculocutaneous+albinism+type+2
Oculocutaneous albinism type 4 | definition of oculocutaneous albinism type 4 by Medical dictionaryOculocutaneous albinism type 4 | definition of oculocutaneous albinism type 4 by Medical dictionary
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Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism | IOVS | ARVO JournalsMutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism | IOVS | ARVO Journals
Purpose: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.This study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.. Methods: We examined four non-consanguineous OCA families. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database.. Results: Four patients, diagnosed as oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient 1 was compound heterozygote for c.1037-7T.A, c.1037-10_11delTT and c.1114delG of TYR gene; patient 2 was heterozygote for c.593C,T and c.1426A,G of OCA2 gene, patient 3 and 4 was compound heterozygote of TYR gene (c.549_510delGT and c.896G,A, c.832C,T and c.985T,C). The heterozygous c.549_510delGT and ...
http://iovs.arvojournals.org/article.aspx?articleid=2332697
Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. | IOVS | ARVO...Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. | IOVS | ARVO...
Purpose: Oculocutaneous albinism Type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here we characterized the recombinant mutant variants of human tyrosinase intra-melanosomal domain mimicking OCA1 genetic changes.. Methods: Recombinant human tyrosinase (residues 19 - 469 of the native protein) and mutant variants, P406L, R402Q, R422Q, R422W, and T373K were prepared using the site-directed mutagenesis, produced in larvae and purified by IMAC and size-exclusion chromatographies. Specific L-DOPA enzyme activities were obtained by the dopachrome absorption at 475 nm. Trp fluorescence ratio (F360 nm/F320 nm) was measured as a function of urea concentration (1-8 M) for the wild type protein and mutant variants using SpectraMax i3 multimode detection platform. Denaturation curves show a sigmoidal, ...
http://iovs.arvojournals.org/article.aspx?articleid=2334633
Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations inTYRP1Gene in Two Chinese Patients | SpringerLinkOculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations inTYRP1Gene in Two Chinese Patients | SpringerLink
Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types
https://link.springer.com/article/10.1007%2Fs12013-011-9234-0
A 1225-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population...A 1225-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population...
Abstract: Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. There are four known types of OCA: OCA1 OCA4. The clinical manifestations of all types of OCA include skin and hair hypopigmentation and visual impairment. Although there are a few documented observations of high frequency of albinism among Native Americans, including the Hopi, Zuni, Kuna, Jemez, Laguna, San Juan, and Navajo, no causative molecular defect has been previously reported. In the present study, we show that albinism in one Native American population, the Navajo, is caused by a LINE-mediated 122.5-kilobase deletion of the P gene, thus demonstrating that albinism in this population is OCA2. This deletion appears to be Navajo specific, because this allele was not detected in 34 other individuals with albinism who listed other Native American origins, nor has it been reported in any other ethnic group. The molecular characterization of this deletion allele allowed us to design a three-primer polymerase chain ...
https://haplogroup.org/sources/a-1225-kilobase-deletion-of-the-p-gene-underlies-the-high-prevalence-of-oculocutaneous-albinism-type-2-in-the-navajo-population/
MedGen for PubMed (Select 21712187) - MedGen - NCBIMedGen for PubMed (Select 21712187) - MedGen - NCBI
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically ...
https://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen&from_uid=21712187
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population | Orphanet...Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population | Orphanet...
Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay. Screening of the TYR gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278*) and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His) in ten families. Ex vivo studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His) tyrosinase in the endoplasmic reticulum (ER) at
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-44/figures/6
Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter | GeneticsRescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter | Genetics
THE colors and patterns on animal body surfaces are often important for visual communication in the wild and are determined primarily by pigment cells (chromatophores) in vertebrates. The chromatophores are distributed in the skin, and their types, sizes, densities, and physiological activities affect these colors and patterns. Although mouse mutants have contributed greatly to our knowledge of skin- and coat-color formation (see Coat Color Genes, http://www.espcr.org/micemut/), mammals possess only one type of chromatophore, the melanocyte. In fish, up to six chromatophore types (melano-, leuco-, erythro-, xantho-, irido-, and cyanophores) have been identified, and there are two distinctive model species to which molecular genetics can be feasibly applied, the zebrafish and the medaka. Chromatophore studies in these species have successfully provided novel clues to the development, regulation, and interaction of these chromatophores (e.g., Parichy et al. 2000; Fukamachi et al. 2004a; Watanabe ...
http://www.genetics.org/content/178/2/761
Repository of UOI Olympias: Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage...Repository of UOI Olympias: Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage...
Contopoulos-Ioannidis, D./ Evangeliou, A./ ter Laak, H./ de Vries, B./ Pfundt, R./ Scheffer, H./ Smeitink, J./ Tzoufi, M./ Makis, A./ Marinos, E./ Hess, R./ Adams, D./ Huizing, M./ Morava, E. ...
http://olympias.lib.uoi.gr/jspui/handle/123456789/18742?mode=full
albinism III | Hereditary Ocular Diseasesalbinism III | Hereditary Ocular Diseases
This tyrosinase-positive type of albinism is sometimes called rufous (ROCA) or brown (BOCA) oculocutaneous albinism and is frequently found in dark-skinned individual such as Africans, African-Americans, and Hispanics. Like other types it is inherited in an autosomal recessive pattern. Mutations in the tyrosinase-related protein-1, TYRP1 (9p23), are responsible which seems to lead to an arrest in melanin maturation and a decrease in the amount of insoluble melanin in melanocytes.. Other autosomal recessive types of oculocutaneous albinism are: OCA1 (203100, 606952), OCA2 (203200), and OCA4 (606574). ...
http://disorders.eyes.arizona.edu/category/alternate-names/albinism-iii
Albinism oculocutaneous tyrosinase-positive - Altmeyers Encyclopedia - Department DermatologyAlbinism oculocutaneous tyrosinase-positive - Altmeyers Encyclopedia - Department Dermatology
Oculocutaneous albinism with autosomal recessive inherited defects of melanin synthesis (tyrosinase activity normal) with greatly reduced but not completely absent pig...
https://www.altmeyers.org/en/dermatology/albinism-oculocutaneous-tyrosinase-positive-118541
AlbinismAlbinism
These defects may be passed down (inherited) through families.. The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color. They also have vision problems.. Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The persons skin and eye color are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).. Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung, kidney, and bowel diseases. ...
http://hhsnj.adam.com/content.aspx?productid=141&isarticlelink=false&pid=1&gid=001479
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of...Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of...
The biogenesis of melanosomes is a multistage process that requires the function of cell-type-specific and ubiquitously expressed proteins. OCA2, the product of the gene defective in oculocutaneous albinism type 2, is a melanosomal membrane protein with restricted expression pattern and a potential role in the trafficking of other proteins to melanosomes. The ubiquitous protein complexes AP-3, BLOC-1, and BLOC-2, which contain as subunits the products of genes defective in various types of Hermansky-Pudlak syndrome, have been likewise implicated in trafficking to melanosomes. We have tested for genetic interactions between mutant alleles causing deficiency in OCA2 (pink-eyed dilution unstable), AP-3 (pearl), BLOC-1 (pallid), and BLOC-2 (cocoa) in C57BL/6J mice. The pallid allele was epistatic to pink-eyed dilution, and the latter behaved as a semi-dominant phenotypic enhancer of cocoa and, to a lesser extent, of pearl. These observations suggest functional links between OCA2 and these three ...
http://onlinelibrary.wiley.com/doi/10.1111/j.1755-148X.2010.00815.x/full
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome | British Journal of OphthalmologyRefractive profile in oculocutaneous albinism and its correlation with final visual outcome | British Journal of Ophthalmology
Patients/methods This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years. They were divided into four subtypes: OCA1A, OCA1B and OCA1C, and OCA2. Refractive errors were evaluated objectively by cycloplegic refraction and subjectively in cooperative patients. Best corrected visual acuity was assessed binocularly. Refractive errors were divided into three groups-hypermetropia, myopia and astigmatism-to avoid the use of spherical equivalent. ...
http://bjo.bmj.com/content/96/4/537.full
Proceedings of the Royal Society of London B: Biological SciencesProceedings of the Royal Society of London B: Biological Sciences
The most frequent genetic basis for albinism in Africa is via homozygosity (often via culturally imbedded inbreeding) for an autosomal recessive variant of the gene OCA2 (oculocutaneous albinism type II), which encodes the P protein critically involved in pigmentation [8,102] (figure 1) and whose natural variants in Europeans are linked to skin cancer risk in GWAS [39,103]. Most African albinos have the same 2.7 kb deletion OCA2 mutation, indicative of a founder allele arising before the dispersion of ethnic subgroups throughout Africa 2000-3000 years ago [104]. The same mutation is commonly found in albinos in America of African or mixed African descent [105]. OCA2 type II, unlike type I, retains tyrosinase activity and therefore OCA2 albinos do synthesize pheomelanin (see figure 1) and have a variable capacity to develop pigmented patches or ephelides on exposed skin which may, as in normal white skin, provide some protection from UV damage and cancer [106,107]. Early studies showed that ...
http://rspb.royalsocietypublishing.org/content/281/1781/20132955.full
William & Mary - Visually Impaired/BlindWilliam & Mary - Visually Impaired/Blind
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).. ...
http://www.wm.edu/offices/deanofstudents/services/studentaccessibilityservices/resources1/conditions/visuallyimpaired/index.php
Gene Ontology ClassificationsGene Ontology Classifications
Predicted to have calcium channel activity and calcium, potassium:sodium antiporter activity. Involved in negative regulation of melanin biosynthetic process. Predicted to localize to trans-Golgi network. Is expressed in brain; ear; embryo mesenchyme; and liver. Used to study ocular albinism. Human ortholog(s) of this gene implicated in oculocutaneous albinism type VI. Orthologous to human SLC24A5 (solute carrier family 24 member 5 ...
http://www.informatics.jax.org/go/marker/MGI:2677271
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SLC45A2 gene, having a chromosomal location 5p13.2, encodes a membrane associated transporter protein (MATP). MATP is a transmembrane protein. It is present in the melanosomal membrane in the melanocytes. It maintains the osmotic potential by regulating the pH of the melanosomal lumen. Defects in the SLC45A2 gene causes oculocutaneous albinism type IV; OCA IV ...
http://documents.irevues.inist.fr/handle/2042/15655/discover?rpp=10&page=1&group_by=none&etal=0&filter_relational_operator_3=equals&filter_relational_operator_2=equals&filter_relational_operator_4=equals&filter_0=Animals&filter_relational_operator_1=equals&filter_2=2019&filter_relational_operator_0=equals&filter_1=Benzodioxoles%2Fpharmacology%2F
SLC45A2 - WikipediaSLC45A2 - Wikipedia
Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene. SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka fish, B, encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms. In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor. SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ancestry. SLC45A2 is the ...
https://en.wikipedia.org/wiki/SLC45A2
Membrane-associated transporter protein
SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines.[8] A similar sequence gene in medaka fish, B, encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.[7] Protein expression is localized to the melanosome, and analysis of the by knockdown of RNA expression leads to altered melanosome pH potentially altering tyrosinase function by affecting copper binding.[9] In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.[10][11] SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from European ...
https://readtiger.com/wkp/en/Membrane-associated_transporter_protein
Tyrosinase-Related Protein 1 - CAGSTyrosinase-Related Protein 1 - CAGS
Monies et al. (2017) illustrated the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 11-year-old male, suffered from hemimegalencephaly, developmental delay and ADHD. He also had abnormal pigmentation all over his body. Whole exome sequencing helped identify a dual molecular diagnosis in this patient. A heterozygous mutation (c.1557T,G, p.Y519X) was found in exon 8 of the patients TYRP1 gene, associated with oculocutaneous albinism type 3, and a heterozygous variant (c.90G,A, p.W30X) was uncovered in exon 1 of the TGIF1 gene, associated with holoprosencephaly 4. Such dual molecular diagnoses were rare and only occurred in 1.5% of the cohort. ...
http://cags.org.ae/ctga/details.aspx?id=2412
Transforming Growth Factor-Beta-Induced Factor - CAGSTransforming Growth Factor-Beta-Induced Factor - CAGS
Monies et al. (2017) reported the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 11-year-old male, suffered from hemimegalencephaly, developmental delay and ADHD. He also had abnormal pigmentation all over his body. Whole exome sequencing helped identify a dual molecular diagnosis in this patient. A heterozygous mutation (c.1557T,G, p.Y519X) was found in exon 8 of the patients TYRP1 gene, associated with oculocutaneous albinism type 3, and a heterozygous variant (c.90G,A, p.W30X) was uncovered in exon 1 of the TGIF1 gene, associated with HPE4. Such dual molecular diagnoses were rare and only occurred in 1.5% of the cohort. Further, given the atypical presentation of the patient, this case helped in the phenotypic expansion of the HPE4 disorder. ...
http://cags.org.ae/ctga/details.aspx?id=2409
Forskjell mellom sidene «Fremre segment og iris» og «Fleischer-ring» - JournalWiki
Albinisme]] kommer av manglende produksjon av [[melanin]] som skyldes forskjellige typer enzymatiske feil, og hyppigst rammer feilen omdannelsen av tyrosin til [[melanin]]. Vanlige funn ved øyeundersøkelse hos pasienter med [[albinisme]] er nedsatt pigmentering av [[iris]] og [[pigmentepitel]]et til [[retina]], gjennomsiktig [[iris]], [[nystagmus]], synsvekkelse grunnet [[hypoplasi]] av [[fovea]], samt lysømfintlighet. ,ref, Lewis RA. Oculocutaneous Albinism Type 1. 2000 Jan 19 [Oppdatert 16.03.2013]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Tilgjengelig fra: [http://www.ncbi.nlm.nih.gov/books/NBK1166/ GeneReviews] sitert 19/1-2016. ,/ref,. Andre funn hos pasienter med [[albinisme]] er hvitlig/lyserød [[hudfarge]], gult/hvitt hår og rødlige gjenskinn i [[pupille]]n. Den rødlige fargen kommer fra refleksjon av kar i [[choroidea]] (årehinnen i øyet). ,ref, Store Norske Leksikon, Albinisme ...
https://studmed.uio.no/journalwiki/index.php?title=Stilling,_leie_og_bevegelighet&diff=5223&oldid=4149
Trial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.govTrial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.gov
A group of 45 individuals with the clinical findings of oculocutaneous albinism (OCA) will be randomly assigned to one of 3 treatment groups: treatment with 0.76 mg/kg/d with 25% carbidopa, 0.51 mg/kg/d levodopa with 25% carbidopa [divided into 3 doses/d), or placebo. Subjects will be between ages 3 and 60 years. Blood will be drawn to determine the mutation(s) in the genes that causes OCA. Primary outcome will be binocular best-corrected visual acuity measured with the EVA. Enrollment and 20 week examination will be complete eye exam with fundus photos. At weeks 5, 10, and 15, exams will include just vital signs and BCVA. At all visits, a review of potential side effects will be conducted. Between visits, subjects will be contacted to determine if any side effects have occurred. The study will remain double masked until the last study examination on the last subject has been performed. At that time, the data will be statistically analyzed and subjects will be informed re: treatment assignment, ...
https://clinicaltrials.gov/show/NCT01176435
Trial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.govTrial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.gov
A group of 45 individuals with the clinical findings of oculocutaneous albinism (OCA) will be randomly assigned to one of 3 treatment groups: treatment with 0.76 mg/kg/d with 25% carbidopa, 0.51 mg/kg/d levodopa with 25% carbidopa [divided into 3 doses/d), or placebo. Subjects will be between ages 3 and 60 years. Blood will be drawn to determine the mutation(s) in the genes that causes OCA. Primary outcome will be binocular best-corrected visual acuity measured with the EVA. Enrollment and 20 week examination will be complete eye exam with fundus photos. At weeks 5, 10, and 15, exams will include just vital signs and BCVA. At all visits, a review of potential side effects will be conducted. Between visits, subjects will be contacted to determine if any side effects have occurred. The study will remain double masked until the last study examination on the last subject has been performed. At that time, the data will be statistically analyzed and subjects will be informed re: treatment assignment, ...
https://clinicaltrials.gov/ct2/show/NCT01176435?recr=Open&cond=%22Pigmentation+Disorders%22&rank=15
OCA4 | Hereditary Ocular DiseasesOCA4 | Hereditary Ocular Diseases
The ocular manifestations in type IV oculocutaneous albinism are similar to those of other types. Nystagmus, strabismus, misrouting of neuronal axons, and foveal hypoplasia are prominent features although there is some clinical heterogeneity among patients. Nystagmus may not be present at birth but is almost always evident by 3-4 months of age. The iris may be pale blue or tan and does not generally darken with age. Poor stereopsis is common. Vision is stable after childhood and usually in the range of 20/100-20/400. ...
https://disorders.eyes.arizona.edu/category/alternate-names/oca4
Two patients with Hermansky Pudlak Syndrome Type 2 and novel mutations in AP3B1 | HaematologicaTwo patients with Hermansky Pudlak Syndrome Type 2 and novel mutations in AP3B1 | Haematologica
Hermansky Pudlak Syndrome Type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report two unrelated subjects with HPS2 who show a characteristic clinical phenotype of oculocutaneous albinism, platelet and T-lymphocyte dysfunction and neutropenia. The subjects were homozygous for different deletions within AP3B1 (g.del180242-180866, c.del153-156), which encodes the AP-3β3A subunit, resulting in frame shifts and introduction of nonsense substitutions (p.E693fsX13, p.E52fsX11). In the subject with p.E693fsX13, this resulted in expression of a truncated variant β3A protein. Cytotoxic T lymphocyte (CTL) clones from both study subjects showed increased cell-surface expression of CD63 and reduced cytotoxicity. Platelets showed impaired aggregation and reduced uptake of 3H-serotonin. These findings are consistent with CTL granule and platelet dense granule ...
http://www.haematologica.org/content/early/2009/08/13/haematol.2009.012286
Nearly Blind Baby Sees Mom for the First Time, and His Heart-Melting Reaction Makes Film Producer Dad Almost Drop Camera -...
Because four-month-old Leopold Reppond suffers from Oculocutaneous Albinism (OCA), a rare condition which affects the pigmentation of the skin,...
http://www.simplegrace.com/posts/nearly-blind-baby-sees-mom-for-the-first-time-and-his-heart-melting-reaction-makes-film-producer-dad-almost-drop-camera-98148
Baby Leopold Has the Cheeziest Grin After Special Glasses Allow Him to See for the First Time - Parenting - crazy parenting...Baby Leopold Has the Cheeziest Grin After Special Glasses Allow Him to See for the First Time - Parenting - crazy parenting...
This cute little dude suffers from oculocutaneous albinism, a condition that affects the color of his hair, skin and also his vision. But thanks to some special infant glasses from Miraflex, Leo is able to see his mom and dad for the first time. There wasnt a dry eye in the room. ...
http://cheezburger.com/79376897/glasses-baby-see-first-time-heartwarming-parenting
UniProtKB/SwissProt variant VAR 022714UniProtKB/SwissProt variant VAR 022714
Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO:0000269,PubMed:11574907, ECO:0000269,PubMed:14722913, ECO:0000269,PubMed:14961451, ECO:0000269,PubMed:15656822, ECO:0000269,PubMed:17768386, ECO:0000269,PubMed:19865097, ECO:0000269,PubMed:23504663}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
http://web.expasy.org/variant_pages/VAR_022714.html
MATP (Demonstration Contest) - MATP (Motor Activity Training Program)MATP (Demonstration Contest) - MATP (Motor Activity Training Program)
Motor Activity Training Program (MATP) is a so called demonstration event. It takes place on March, 23rd, in the Messe Graz (Hall A, Ground Floor). ...
http://austria2017.org/en/games-2017/die-spiele/sportarten/matp-demonstration-contest
Growing Oca: Oca as a Late-Planted Crop… Seems to WorkGrowing Oca: Oca as a Late-Planted Crop… Seems to Work
Most growers start their oca tubers in pots indoors as early as possible, and move them outside to their final planting site as soon as the threat of frost has passed. This gives the longest available growing season, and hence more foliage with which to make more tubers. This is quite logical, but oca grows slowly in Spring, and quickly in late Summer, so the question arises - why squander valuable Spring planting space on widely spaced small plants? Why not treat Oca as a late-planted follow-on crop utilising space made available by the harvest of Spring crops? Worth a try I thought, so these plants ...
http://oca-testbed.blogspot.com/2014/03/oca-as-late-planted-crop-seems-to-work.html
Outback Futures Project Moves Forward | OCAOutback Futures Project Moves Forward | OCA
The OCA is pleased to announce further development of the Outback Futures Project with a comprehensive strategic planning process soon to commence in partnership with Outback communities over the next six months.. Click here to for the full Media Release.. ...
https://oca.sa.gov.au/OutbackFuturesMediaReleaseMay2021
Ocular albinism - WikipediaOcular albinism - Wikipedia
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865. Both known genes are on the X chromosome. When the term autosomal recessive ocular albinism (AROA) is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]. ...
https://en.wikipedia.org/wiki/Ocular_albinism
The Difference Between Albinism, Leucism & Isabellinism - KnowledgeNutsThe Difference Between Albinism, Leucism & Isabellinism - KnowledgeNuts
Its estimated that about one in every 18,000-20,000 people in the United States have some form of albinism.. There are several different forms. Oculocutaneous albinism (OCA) happens when theres a mutation in one gene. OCA results in white skin, white hair, and blue eyes.. X-linked ocular albinism occurs only in men, and manifests as light-colored skin and hair thats still considered within the normal range.. Hermansky-Pudlak syndrome has symptoms similar to OCA, but its more common in Puerto Rico and its usually accompanied by blood, lung, and bowel disorders.. And Chediak-Higashi syndrome is a rare version that gives hair a silver cast and causes skin to be grayish. White blood cell counts are often affected as well, making people with this type more prone to infections.. As for eye color in humans with albinism, the red, pink, or purple appearance can show up when the light is just right. While the eyes themselves can be blue or brown, the lack of pigmentation can make them seem ...
http://knowledgenuts.com/2016/02/05/the-difference-between-albinism-leucism-isabellinism/comment-page-36/
Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns ...Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns ...
COAT color has been a fascinating topic of genetic discussion and discovery for over a century. The pigment genes of mice were one of the first genetic systems to be explored through breeding and transgenic studies. To date, at least 127 loci involved in pigmentation have been described (Silvers 1979; Bennett and Lamoreux 2003). The genes that affect pigmentation in the skin and hair influence other body systems, and many of these genes have been studied in different mammals. One of the most extensively studied examples is oculocutaneous albinism type 1, a developmental disorder in humans that affects pigmentation in the skin and hair, as well as eye development. This disease is caused by mutations in the tyrosinase gene (TYR), which is involved in the first step of melanin production (Toyofuko et al. 2001; Ray et al. 2007).. Horses (Equus caballus) are valued by breeders and enthusiasts for their beauty and variety of coat color and patterns. The genetic mechanisms involved in several different ...
http://www.genetics.org/content/179/4/1861.long
Animals with albinism - definition of Animals with albinism by The Free DictionaryAnimals with albinism - definition of Animals with albinism by The Free Dictionary
Define Animals with albinism. Animals with albinism synonyms, Animals with albinism pronunciation, Animals with albinism translation, English dictionary definition of Animals with albinism. n. 1. Any of several inherited conditions characterized by the reduction or absence of the pigment melanin in a person or animal, resulting in lack of...
https://www.thefreedictionary.com/Animals+with+albinism
Osteoporosis and Oculocutaneous Hypopigmentation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsOsteoporosis and Oculocutaneous Hypopigmentation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2786DefinitionOsteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.Visit the Orphanet disease page for more resources ...
https://www.malacards.org/card/osteoporosis_and_oculocutaneous_hypopigmentation_syndrome
Get Involved Through Albinism InSight Magazine - NOAH - AlbinismGet Involved Through Albinism InSight Magazine - NOAH - Albinism
For the latest news, events and information about the albinism community, subscribe to Albinism InSight today. NOAH is a volunteer organization which provides people with albinism, their families and those that work with them the opportunity to get information, ask questions, share their experiences, and connect with the albinism community. Resources are also available for those doing a report on albino people.
http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9539619/k.6E64/Get_Involved_Through_Albinism_InSight_Magazine.htm
Organization Info | The Albinism Alliance Group
Building a Powerful Impact w/Grassroots Albinism Special Interest Groups!. The Albinism Alliance Group or TAAG is an advocacy network organized to Celebrate the Beauty of Albinism! To accomplish this we serve as an informational resource to the community. Were creating a series of information pertinent to understanding living with albinism and related characteristics. TAAG envisions a larger mulch-cultural resource by joining forces with other special interest grassroots organizations.. The Albinism Alliance Group was formed in March of 2003. and created from merging The Atlanta Area Support Group and online social network Blonde Black Cuties. Since then, membership has grown tremendously and we currently have 397 members around the world.. We have furthered endeavors with social networking, online activities, and meet and greets. Additional activities and events have blossomed into meaningful memories by giving people from all walks of life, an opportunity to share experiences of living ...
http://albinism-alliance.org/category/organization-info/
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohns Disease...Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohns Disease...
Originally described in 1959 by Drs. Hermansky and Pudlak, HPS is now known to be a rare autosomal recessive disease of lysosome-related organelles.2 There are several subtypes, but all share oculocutaneous albinism and platelet dysfunction.1 Different subtypes have associated conditions and differ in the affected gene.3 HPS type 1 is the most common subtype and is associated with Puerto Rican heritage due to a founder mutation in this population. HPS types 1 and 4 are associated with granulomatous enterocolitis that is phenotypically similar to CD.1,4,5 A case series of 4 patients reported that 3 of 4 patients had perianal disease, all were treated with infliximab, and 2 of 4 patients had complete response to infliximab at 6 weeks.6 Similar to the patient in Case 1, two of their patients underwent colectomy, one of which was due to severe acute rectal hemorrhage. In a case series of 8 HPS patients with colitis seen on colonoscopy, 1 patient showed perianal disease and 2 patients were treated ...
http://acgcasereports.gi.org/two-complex-cases-of-hermansky-pudlak-syndrome-highlight-a-potential-biologic-explanation-for-an-associated-crohns-disease-phenotype/
Albinism, ocular | Article about Albinism, ocular by The Free DictionaryAlbinism, ocular | Article about Albinism, ocular by The Free Dictionary
Looking for Albinism, ocular? Find out information about Albinism, ocular. The state of having colorless chromatophores, which results in the absence of pigmentation in animals that are normally pigmented. A hereditary, metabolic... Explanation of Albinism, ocular
http://encyclopedia2.thefreedictionary.com/Albinism%2C+ocular
Hermansky-Pudlak syndrome 4 protein elisa and antibodyHermansky-Pudlak syndrome 4 protein elisa and antibody
Shop Hermansky-Pudlak syndrome 4 protein ELISA Kit, Recombinant Protein and Hermansky-Pudlak syndrome 4 protein Antibody at MyBioSource. Custom ELISA Kit, Recombinant Protein and Antibody are available.
https://www.mybiosource.com/protein_family.php?root=hermansky-pudlak-syndrome-4-protein
Hermansky-Pudlak syndrome: Definition with Hermansky-Pudlak syndrome Pictures and PhotosHermansky-Pudlak syndrome: Definition with Hermansky-Pudlak syndrome Pictures and Photos
Definition of Hermansky-Pudlak syndrome with photos and pictures, translations, sample usage, and additional links for more information.
http://www.lexic.us/definition-of/Hermansky-Pudlak_syndrome
Direct molecular identification of the mouse pink-eyed unstable mutat by M H. Brilliant, Y Gondo et al.Direct molecular identification of the mouse pink-eyed unstable mutat by M H. Brilliant, Y Gondo et al.
DNA sequences associated with the mouse pink-eyed unstable mutation were identified in the absence of closely linked molecular markers and without prior knowledge of the encoded gene product. This was accomplished by genome scanning,: a technique in which high-resolution Southern blots of genomic DNAs were hybridized to a dispersed and moderately repetitive DNA sequence. In this assay, pink-eyed unstable DNA was distinguished from the DNA of wild-type and revertant mice by enhanced hybridization to one of several hundred resolved fragments. The fragment showing enhanced hybridization in pink-eyed unstable DNA was cloned and found to lie within a DNA duplication that is located close to, or within, the pink-eyed dilution locus. The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation.
https://mouseion.jax.org/stfb1990_1999/125/
Albinism Insight | National Organization for Albinism and HypopigmentationAlbinism Insight | National Organization for Albinism and Hypopigmentation
Subscribe Today! What is Albinism InSight? ~ Why Subscribe? ~ Missed an Issue? ~ Just for Educators ~ Submit Content to AI What is Albinism InSight? Published
https://albinism.org/ai/
Albinism in children - What Doctors Want You to KnowAlbinism in children - What Doctors Want You to Know
Albinism in children - What are the chances of a person with albinism passing his problem to their children? X-linked or recesiv. The transmission of albinism will depend on the form involved. A male may have an x-linked or autosomal recessive (ar) form. A female is most likely to have the recessive form. A male would not pass it to his sons but could pass the carrier state to his unaffected daughters who might pass it to her sons. The ar albino only passes a carrier state unless the spouse carries the ar gene.
https://www.healthtap.com/topics/albinism-in-children
Albinism in Animals | HowStuffWorksAlbinism in Animals | HowStuffWorks
Albinism in Animals - Albinism in animals is rare, but nearly every species can produce offspring with albinism. Learn about albanism in animals.
https://health.howstuffworks.com/skin-care/problems/medical/albinism6.htm
CiNii 論文 - Hermansky-Pudlak Syndrome の最新の知見2. Hermansky-Pudlak Syndrome 関連蛋白質群 : 膜輸送とメラノソーム生合成に関して
Hermansky-Pudlak Syndrome の最新の知見2. Hermansky-Pudlak Syndrome 関連蛋白質群 : 膜輸送とメラノソーム生合成に関して Hermansky-Pudlak Syndrome : new insights into membrane trafficking and biogenesis of melanosome ...
https://ci.nii.ac.jp/naid/10018350637
Genetics of Hermansky-Pudlak SyndromeGenetics of Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, with symptoms such as albinism, prolonged bleeding and cell storage problems.
http://www.brighthub.com/science/genetics/articles/38333.aspx
Pharmacogenetics of Warfarin in Puerto Rican Patients using a Physiogenomics Appr - Jorge DucongePharmacogenetics of Warfarin in Puerto Rican Patients using a Physiogenomics Appr - Jorge Duconge
Warfarin is a frequently prescribed drug for both the treatment and prevention of thromboembolic complications. Although many reports have been published over t...
http://grantome.com/grant/NIH/SC2-HL110393-02
Albinism Clinical Presentation: History, Physical, CausesAlbinism Clinical Presentation: History, Physical, Causes
Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions.
https://emedicine.medscape.com/article/1200472-clinical
Albinism Essay Research Paper AlbinismIn the pastAlbinism Essay Research Paper AlbinismIn the past
Albinism Essay, Research Paper Albinism In the past, albinos were usually treated with fear or awe. They were sometimes killed at birth. Albino births were common enough in some groups not to cause any excitement. For example, among the San Blas Indians of Panama, one in approximately 130 births is an albino.
http://mirznanii.com/a/76052/albinism-essay-research-paper-albinismin-the-past
AlbinismAlbinism
Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.
http://kidshealth.org/WillisKnighton/en/teens/albinism.html?view=rr
Albinism Facts and FictionAlbinism Facts and Fiction
The past decade has brought news of an atrocity, mainly from Africa: the slaughter of humans with albinism for their body parts for use in ritual magic. Bodies are usually found headless and missing one or more limbs, but sometimes are completely torn apart, missing even internal organs. The reason is, of course, pure unadulterated pseudoscience; we can confidently state that there is no magical benefit to the use of unpigmented body parts, and thats to say nothing of the abhorrence of murder for any purpose. Clearly there are some fictional beliefs out there concerning the nature of people with albinism, and today were going to look at some more of these beliefs that might be held even by those of us who are not into black magic.. But the use of their body parts in ritual magic is the elephant in the room. Arms and legs are the witch doctors preferred bits. They are used as charms and talismans, and other body parts also have magical value, such as hair being sewn into fishing nets to bring ...
https://skeptoid.com/episodes/4425
gene therapy for albinismgene therapy for albinism
Humans, animals, and even plants can have albinism, a condition that gives people a kind of . Albinism is a genetic condition where people are born without the usual . So can talking to a counselor or therapist to get ideas on coping with the ...
http://tadijomajop.opx.pl/gene-therapy-for-albinism.php
Albinism by Lindsey Sieja on PreziAlbinism by Lindsey Sieja on Prezi
www.abinism.org Work Cited Staff, Mayo Clinic. Definition. Mayo Clinic. Mayo Foundation for Medical Education and Research, 02 Apr. 2011. Web. 09 May 2013. ,http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=symptoms,. (affected) http://geneticdisordersp7.wikispaces.com/Albinism http://en.wikipedia.org/wiki/File:Reading_glasses. ...
https://prezi.com/qkei0earr5jo/albinism/
Ataxia-Telangiectasia in Ophthalmology Clinical Presentation: History, Physical, CausesAtaxia-Telangiectasia in Ophthalmology Clinical Presentation: History, Physical, Causes
Ataxia-telangiectasia (AT) is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. The first case described in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re...
https://emedicine.medscape.com/article/1219140-clinical
Albinism panel - Sequencing-NGS, WGS, WES, NBS,BRCA, Carrier ScreeningAlbinism panel - Sequencing-NGS, WGS, WES, NBS,BRCA, Carrier Screening
Multiplex Ligation-dependent Probe Amplification (MLPA) for deletuion/ duplication ananlysis , Sequence analysis of the entire coding region Albinism are thetests Panel includes sequence analysis of the following 20 genes: TYR, OCA2, TYPR1, SLC45A2,
https://mapmygenome.in/diagnostics/albinism-panel
DMOZ - Health: Conditions and Diseases: Skin Disorders: Albinism
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination of recessive genes passed from both parents of an individual. A variety of problems with photosensitivity in eyesight and skin usually result from the condition.
http://dmoztools.net/Health/Conditions_and_Diseases/Skin_Disorders/Albinism/
Albinism - Health, Conditions and Diseases, Skin DisordersAlbinism - Health, Conditions and Diseases, Skin Disorders
Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination.
http://www.inter.rs/kategorije/Health/Conditions_and_Diseases/Skin_Disorders/Albinism/
Condition Navigator - Page 85 of 85 - Medicine and HealthCondition Navigator - Page 85 of 85 - Medicine and Health
Albinism refers to a group of rare inherited disorders that are present from birth. Albinism affects the amount of pigment found in the skin, hair, and eyes. People with albinism usually have little to no pigment in their eyes, skin, and hair, but the degree of pigment loss can be quite variable. There are four types of Albinism:. ...
http://mednhealth.com/medical-condition-library/condition-navigator/page/85/
Blind or Not-Quite-So-Blind - Albinism Up CloseBlind or Not-Quite-So-Blind - Albinism Up Close
Partial or complete loss of sight? Inability to see?. Well, thats undefined, but this indefinite definition is a good thing for those of us with Albinism. We all have some form of partial loss of sight do we not? This unclear definition of blindness puts us in a large and varied group of people. It places us within a certain community; one in which we can confide and receive guidance, assistance, and understanding. As a community, we need to stand together! This is our place: to encourage, to lead, to inform, and to be a beacon to the world. We have to let the world know that we deserve every opportunity, and we will fight just as hard and harder to turn that opportunity into a life filled with success.. This is my call to action to all of you; dont be afraid of who you are; be your own advocate; accomplish everything that you want to accomplish; and when you have done so, dream even bigger. These are our lives.. This site is here for this exact purpose: to bring us together. Feel free to ...
https://albinismupclose.com/blind-or-not-quite-so-blind/
Albinism Archives - Albinism Up CloseAlbinism Archives - Albinism Up Close
Hope can keep us going when times are at their darkest, but in rare circumstances, hope can be detrimental to progress. Oh, how I know this truth well. I am a huge believer in hope; the eternal optimist most days. But, in this one case, hope broke my heart. ...
https://albinismupclose.com/category/albinism/
OMIA - Online Mendelian Inheritance in AnimalsOMIA - Online Mendelian Inheritance in Animals
Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Considered a defect: no Key variant known: yes Year key variant first reported: 2015 Key variant is published: no Species-specific symbol: OH History: As reported by Hollman et al. (2017), via a personal communication from Dr Jon Beever, Recently an alteration of iris coloration has been observed in Angus and Simmental breed. Affected cattle showed an oculocutaneous hypopigmentation (OH) with a pale blue iris and a tan periphery coupled with a change in coat color from black to chocolate. It is assumed that this aberration was introduced into the Simmental breed in the late 1950s by Angus founders and is inherited as an autosomal recessive trait. As described by Dr Beever in a 2015 press release from the American Simmental Association (Anon., 2015), In the spring of 2012, the American Simmental Association (ASA) received an abnormality report indicating the occurrence of a newborn calf with white-colored eyes and a ...
https://omia.org/OMIA002101/9913/
A Run Through History 5K to be held in Oyster Bay, NY | Hermansky-Pudlak Syndrome NetworkA Run Through History 5K to be held in Oyster Bay, NY | Hermansky-Pudlak Syndrome Network
The second annual A Run Through History will be held Sunday, Oct. 22nd at 8:30 am at Theodore Roosevelt Memorial Park in Oyster Bay, NY. The event will benefit the HPS Network and PeerPals.org. To participate in the race, there is a $25 entrance fee, plus a $2.50 sign-up fee. Come run, or just w ...
https://www.hpsnetwork.org/newsroom/a-run-through-history-5k-to-be-held-in-oyster-bay-ny/
Hermansky-Pudlak Syndrome 3 (HPS3) AntikörperHermansky-Pudlak Syndrome 3 (HPS3) Antikörper
Reaktivität: Rind (Kuh), Hund, Meerschweinchen and more. 50 verschiedene HPS3 Antikörper vergleichen. Alle direkt auf antikörper-online bestellbar!
http://www.antikoerper-online.de/abstract/HermanskyPudlak+Syndrome+3+
Supporters escape to fund the cure | Hermansky-Pudlak Syndrome NetworkSupporters escape to fund the cure | Hermansky-Pudlak Syndrome Network
Supporters of the HPS Network took on the challenge of an escape room at The Great Escape Zone in Bensalem, PA to benefit the HPS Network. The event was org(...)
https://www.hpsnetwork.org/newsroom/supporters-escape-to-fund-the-cure/
Living on the frontlines: The Wrath of Dr. Khan: ER vs MedicineLiving on the frontlines: The Wrath of Dr. Khan: ER vs Medicine
Ive kept a journal since I was about 13 years old. In it, I recorded everything around me fit for public consumption (you never know who might find a journal.) I recorded the day-to-day events of life, commentary on world events, and the rites of passage I experienced growing up. As an adult, however, life suddenly didnt inspire entries - it got in the way of them. Once grand ambition faded into the pragmatism of trying to pay the bills. Then, in 2002, I learned I had Hermansky-Pudlak Syndrome, a rare type of albinism that causes a myriad of other health problems including a bleeding disorder, colitis and pulmonary fibrosis. At 29, I learned most people with the type of HPS I have pass away in their late 30s to early 40s. Suddenly I wanted to journal again. I wanted to leave a record of what had happened to me and what Id learned from it. Yet writing it down has often been too painful. Here is my attempt to reconnect with my old self. I dont want my life to be defined by HPS. I want to think ...
http://heatherkirkwood.blogspot.com/2012/01/wrath-of-dr-khan-er-vs-medicine.html
Living on the frontlines: Health Update - Wait and see, and wait and seeLiving on the frontlines: Health Update - Wait and see, and wait and see
Ive kept a journal since I was about 13 years old. In it, I recorded everything around me fit for public consumption (you never know who might find a journal.) I recorded the day-to-day events of life, commentary on world events, and the rites of passage I experienced growing up. As an adult, however, life suddenly didnt inspire entries - it got in the way of them. Once grand ambition faded into the pragmatism of trying to pay the bills. Then, in 2002, I learned I had Hermansky-Pudlak Syndrome, a rare type of albinism that causes a myriad of other health problems including a bleeding disorder, colitis and pulmonary fibrosis. At 29, I learned most people with the type of HPS I have pass away in their late 30s to early 40s. Suddenly I wanted to journal again. I wanted to leave a record of what had happened to me and what Id learned from it. Yet writing it down has often been too painful. Here is my attempt to reconnect with my old self. I dont want my life to be defined by HPS. I want to think ...
http://heatherkirkwood.blogspot.com/2013/01/health-update-wait-and-see-and-wait-and.html
Oculocutaneous albinismOculocutaneous albinism
"Orphanet: Oculocutaneous albinism". Orphanet. "OMIM Entry - #615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7". Online ... 864 Oculocutaneous albinism is also found in non-human animals. The following types of oculocutaneous albinism have been ... Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an ... Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ...
https://en.wikipedia.org/wiki/Oculocutaneous_albinism
Oculocutaneous albinism type IOculocutaneous albinism type I
... or type 1A is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is ... "Oculocutaneous Albinism". atlasgeneticsoncology.org. Retrieved 2021-04-26. "Oculocutaneous albinism , Genetic and Rare Diseases ... Oculocutaneous albinism type IA is the most severe type of albinism, as it is characterized by no melanin production. Other ... Because type IA Albinism has no functioning copies of the gene, it is the most severe type of albinism. The mutations on this ...
https://en.wikipedia.org/wiki/Oculocutaneous_albinism_type_I
Albinism in humansAlbinism in humans
The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4 ... in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3"". American ... The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. ...
https://en.wikipedia.org/wiki/Albinism_in_humans
LeucismLeucism
"Oculocutaneous Albinism". NORD (National Organization for Rare Disorders). Retrieved 2020-06-23. Coat color, dominant white ... This is in contrast to albinism, for which leucism is often mistaken. Albinism results in the reduction of melanin production ... Due to the lack of melanin production in both the retinal pigmented epithelium (RPE) and iris, those affected by albinism ... Albino and white squirrels Amelanism Dyschromia Erythrism Heterochromia iridum Albinism Melanism Piebaldism Vitiligo ...
https://en.wikipedia.org/wiki/Leucism
MelaninMelanin
Another form of Albinism, the "yellow oculocutaneous albinism", appears to be more prevalent among the Amish, who are of ... "Oculocutaneous Albinism". Archived from the original on 23 December 2008. Peracha, Mohammed O.; Cosgrove, Frances M.; Garcia- ... For example, the most common type, called oculocutaneous albinism type 2 (OCA2), is especially frequent among people of black ... "oculocutaneous albinism". Genetics Home Reference. Retrieved 25 September 2017. Meredith, Paul; Sarna, Tadeusz (1 December 2006 ...
https://en.wikipedia.org/wiki/Melanin
List of OMIM disorder codesList of OMIM disorder codes
TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; TYR Albinism, oculocutaneous, ... CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; ... ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous ... MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
Human skin colorHuman skin color
One common type of albinism is oculocutaneous albinism or OCA, which has many subtypes caused by different genetic mutations. ... Oculocutaneous albinism (OCA) is a lack of pigment in the eyes, skin and sometimes hair that occurs in a very small fraction of ... OCA2 Oculocutaneous albinism II (OCA2) assists in the regulation of pH in melanocytes. The OCA2 gene's derived His615Arg ( ... ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A Archived 2010-08-03 at the Wayback Machine, Johns Hopkins University "Everything You ...
https://en.wikipedia.org/wiki/Human_skin_color
Emma FoyEmma Foy
Foy was born with oculocutaneous albinism. Of Māori descent, she affiliates to the Ngāpuhi iwi. "Rio Paralympics: NZ goes out ...
https://en.wikipedia.org/wiki/Emma_Foy
TYRP1TYRP1
... in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"". American ... Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism ... Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (November 1997). "Rufous oculocutaneous albinism in southern ... Sarangarajan R, Boissy RE (December 2001). "Tyrp1 and oculocutaneous albinism type 3". Pigment Cell Research. 14 (6): 437-444. ...
https://en.wikipedia.org/wiki/TYRP1
Albinism in popular cultureAlbinism in popular culture
Types of albinism include: Oculocutaneous albinism. Affects the skin, hair, and eyes. Around 1 in 70 people have a mutation in ... Jeambrun, Pascale (1998). "Oculocutaneous albinism: Clinical, historical and anthropological aspects". Archives de Pédiatrie. 5 ... The depiction of albinism in popular culture, especially the portrayal of people with albinism in film and fiction, has been ... Centers, S. (2005). "Famous People with Albinism". SARA-Foundation.com. Campbell, California: Supporting Albinism Research and ...
https://en.wikipedia.org/wiki/Albinism_in_popular_culture
Chédiak-Higashi syndromeChédiak-Higashi syndrome
Thus, patients are susceptible to infections and often present with oculo-cutaneous albinism and coagulation defects. Patients ... The syndrome is associated with oculocutaneous albinism. Patients are prone to infections, especially with Staphylococcus ... People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other ... The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak-Higashi ...
https://en.wikipedia.org/wiki/Chédiak–Higashi_syndrome
Axenfeld-Rieger syndromeAxenfeld-Rieger syndrome
Lubin, J. R. (1981). Oculocutaneous Albinism Associated with Corneal Mesodermal Dysgenesis. American Journal of Ophthalmology, ... urethral and anal anomalies as well as albinism. The molecular genetics of Axenfeld-Rieger syndrome are poorly understood, but ...
https://en.wikipedia.org/wiki/Axenfeld–Rieger_syndrome
Membrane-associated transporter proteinMembrane-associated transporter protein
March 2004). "Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human ... Mutations in the gene have also been identified as the cause of human Type IV oculocutaneous albinism. SLC45A2 is the so-called ... Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV ... "OMIM Entry - #606574 - ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4". Mendelian Inheritance in Man. Johns Hopkins University. ...
https://en.wikipedia.org/wiki/Membrane-associated_transporter_protein
AlbinismAlbinism
Type I oculocutaneous albinism (OCA1a) is the form most commonly recognised as 'albino' as this results in a complete absence ... Imperfect albinism - when melanin is reduced in the eyes, skin and feathers. Partial albinism - when albinism is localized to ... Animals portal Wikimedia Commons has media related to Albinism. Albinism in humans Albinism in chickens Albino and white ... Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent ...
https://en.wikipedia.org/wiki/Albinism
OCA2OCA2
Oculocutaneous albinism caused by mutations in the OCA2 gene is called oculocutaneous albinism type 2. The prevalence of OCA ... "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". The New England ... "Oculocutaneous albinism type 2". Orphanet. Retrieved 2014-11-09. "OCA2 - oculocutaneous albinism II". Genetics Home Reference ... "Entrez Gene: OCA2 oculocutaneous albinism II (pink-eye dilution homolog, mouse)". Retrieved 2015-03-12. Warren WC, Boggs TE, ...
https://en.wikipedia.org/wiki/OCA2
Snowflake (gorilla)Snowflake (gorilla)
Snowflake was a western lowland gorilla with non-syndromic oculocutaneous albinism. He had poor vision, though tests to ... The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. Snowflake received the recessive gene ... which is perhaps suggestive of partial albinism.[citation needed] In 2001, Snowflake was diagnosed with an unusual form of skin ... from both parents, causing his albinism. Upon his arrival to Barcelona in November 1966, he was given an official reception by ...
https://en.wikipedia.org/wiki/Snowflake_(gorilla)
Ocular albinism type 1Ocular albinism type 1
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ... "NOAH - Ocular". www.albinism.org. Archived from the original on 2002-02-23. Surace, E.M., Angeletti, B., Ballabio, A. and ...
https://en.wikipedia.org/wiki/Ocular_albinism_type_1
Chelsey GotellChelsey Gotell
She has oculocutaneous albinism which causes her to have poor vision. Gotell was born and raised in Antigonish, Nova Scotia. ...
https://en.wikipedia.org/wiki/Chelsey_Gotell
Hermansky-Pudlak syndromeHermansky-Pudlak syndrome
January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations ... Davies, Bh; Tuddenham, Eg (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet ... is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding ... There are three main disorders caused by Hermansky-Pudlak syndrome, which result in these symptoms: Albinism and eye problems: ...
https://en.wikipedia.org/wiki/Hermansky–Pudlak_syndrome
Tiger eyeTiger eye
Frank Nicholas (2017-09-02). "OMIA 002124-9796: Coat colour, albinism, oculocutaneous type VI in Equus caballus". University of ... and another mutation can cause oculocutaneous albinism (OCA) type 6 (OCA6), which impairs vision. No vision impairment is seen ... Vogel P, Read RW, Vance RB, Platt KA, Troughton K, Rice DS (March 2008). "Ocular albinism and hypopigmentation defects in ...
https://en.wikipedia.org/wiki/Tiger_eye
TrichomegalyTrichomegaly
"A case of familial trichomegaly in association with oculocutaneous albinism type 1". Eye. 18 (8): 863-864. doi:10.1038/sj.eye. ...
https://en.wikipedia.org/wiki/Trichomegaly
MelanocyteMelanocyte
People with oculocutaneous albinism typically have a very low level of melanin production. Albinism is often but not always ... In all, already 17 types of oculocutaneous albinism have been recognized. Each gene is related to different protein having a ... Albinism may be caused by a number of other genes as well, like OCA2, SLC45A2, TYRP1, and HPS1 to name some. ... new genes and new types of albinism". Pigment Cell & Melanoma Research. 27 (1): 11-8. doi:10.1111/pcmr.12167. PMID 24066960. ...
https://en.wikipedia.org/wiki/Melanocyte
Dog coat geneticsDog coat genetics
"A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs". PLOS ONE. 9 (3): e92127. Bibcode: ... The third way is when dogs are affected by albinism. A different gene, unaffected by coat color, can make the eyes blue. ... Wijesena, H. R.; Schmutz, S. M. (1 May 2015). "A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long ... based on a 2014 publication about albinism in the Doberman Pinscher and later in other small breeds, the discovery was made ...
https://en.wikipedia.org/wiki/Dog_coat_genetics
Kelly Gallagher (alpine skier)Kelly Gallagher (alpine skier)
Gallagher has oculocutaneous albinism, is visually impaired and competes with a sighted guide. At the 2009 New Zealand Winter ...
https://en.wikipedia.org/wiki/Kelly_Gallagher_(alpine_skier)
Persecution of people with albinismPersecution of people with albinism
Oculocutaneous albinism, OCA2, is the most common gene type of albinism inherited disorders among the Bantu population of ... Lund, Patricia M.; Taylor, Julie S. (30 June 2008). "Lack of adequate sun protection for children with oculocutaneous albinism ... Albinism Foundation Zambia is based in Lusaka, Zambia. The founder of the Albinism Foundation of Zambia (AFZ) is John Chiti as ... "Albinism in Malawi Stop The Killings." Albinism in Malawi Stop The Killings , Amnesty International, 2016, "Tanzania: No Albino ...
https://en.wikipedia.org/wiki/Persecution_of_people_with_albinism
Microcephaly albinism digital anomalies syndromeMicrocephaly albinism digital anomalies syndrome
Common symptoms are: microcephaly oculocutaneous albinism Slow development of the fingers hypoplasia of the distal phalanx of ... The syndrome includes microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers, and ... Kotzot, Dieter; Richter, Konrad; Gierth-Fiebig, Kornelia (15 April 1994). "Oculocutaneous albinism, immunodeficiency, ... positive oculocutaneous albinism Recurrent bacterial infections granulocytopenia intermittent thrombopenia protruding midface/ ...
https://en.wikipedia.org/wiki/Microcephaly_albinism_digital_anomalies_syndrome
DobermannDobermann
Winkler PA (2014). "A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs". PLOS One. 9 ( ... Although this is consistent with albinism, the proper characterization of the mutation is currently unknown. The animals are ... commonly known as tyrosinase-positive albinoids, lacking melanin in oculocutaneous structures. This condition is caused by a ...
https://en.wikipedia.org/wiki/Dobermann
Sophie ThornhillSophie Thornhill
She has only 7-9% vision owing to oculocutaneous albinism, which causes visual impairment. She met the para-cyclist Anthony ...
https://en.wikipedia.org/wiki/Sophie_Thornhill
Western lowland gorillaWestern lowland gorilla
This transporter is also known to be involved in oculocutaneous albinism type 4 in humans. As it is a recessive allele, and his ... and was diagnosed with non-syndromic albinism. The genetic variant for Snowflake's albinism was identified by the scientists as ... He presented the typical traits and characteristics of albinism seen in humans, including white hair, pinkish skin, light ...
https://en.wikipedia.org/wiki/Western_lowland_gorilla
Nicole EsdaileNicole Esdaile
... and has a visual disability called oculocutaneous albinism. Esdaile is a goalball player, and is classified as a B2 competitor ...
https://en.wikipedia.org/wiki/Nicole_Esdaile
White Amazonian IndiansWhite Amazonian Indians
Oculocutaneous albinism: clinical, historical and anthropological aspects]. Archives de Pédiatrie (in French). Société ... The Guna people of Panama and Colombia have a high incidence rate of albinism, which led Westerners to nickname them "white ...
https://en.wikipedia.org/wiki/White_Amazonian_Indians
List of skin conditionsList of skin conditions
Ocular albinism Oculocutaneous albinism Pallister-Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of ... Albinism-black lock-cell migration disorder of the neurocytes of the gut-deafness syndrome (ABCD syndrome) Albinism-deafness ... partial albinism with immunodeficiency) Griscelli syndrome type 3 Hemochromatosis (bronze diabetes) Hemosiderin ... oculocutaneous tyrosinemia, Richner-Hanhart syndrome) Vohwinkel syndrome (keratoderma hereditaria mutilans, keratoma ...
https://en.wikipedia.org/wiki/List_of_skin_conditions
White horseWhite horse
... because one mutation on SLC45A2 is associated with Oculocutaneous albinism type 4. However, other mutations in SLC45A2 are ... "What is Albinism?". The National Organization for Albinism and Hypopigmentation. Archived from the original on 14 May 2012. ... This accounts for the reddish appearance of eyes in some types of albinism. In research mammals, such as mice, albinism is more ... not albinism nor partial albinism. All so-called "albino" horses have pigmented eyes, generally brown or blue. In contrast, ...
https://en.wikipedia.org/wiki/White_horse
List of diseases (O)List of diseases (O)
Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism, ... tyrosinase negative Oculocutaneous albinism, tyrosinase positive Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd ... Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism ... hereditary Ochronosis Ockelbo disease Ocular albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular ...
https://en.wikipedia.org/wiki/List_of_diseases_(O)
AmelanismAmelanism
Certain alleles of this gene, TYR, at the Color locus, cause oculocutaneous albinism type 1 in humans and the familiar red-eyed ... Albinism Dyschromia Erythrism Heterochromia iridum Leucism Melanism Piebaldism Vitiligo Xanthochromism "Albinism". Encyclopædia ... This condition is more commonly called albinism. Amelanistic mammals have white hair, pink skin, and eyes that have a pink, red ... The opposite of amelanism is melanism, a higher percentage of melanin.[citation needed] A similar condition, albinism, is a ...
https://en.wikipedia.org/wiki/Amelanism
Dorothy TrumpDorothy Trump
... including X-linked congenital stationary night blindness and oculocutaneous albinism. She left Cambridge for Manchester in 2003 ...
https://en.wikipedia.org/wiki/Dorothy_Trump
Renata LaxovaRenata Laxova
"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., ...
https://en.wikipedia.org/wiki/Renata_Laxova
Major facilitator superfamilyMajor facilitator superfamily
... underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981-8. doi:10.1086/324340. ...
https://en.wikipedia.org/wiki/Major_facilitator_superfamily
HPS4HPS4
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary ...
https://en.wikipedia.org/wiki/HPS4
Mwaura Isaac MaiguaMwaura Isaac Maigua
Kromberg, J. G. R.; Ramsay, M.; Kerr, R.; Manga, P. (2013-01-01). "Biology and genetics of oculocutaneous albinism and vitiligo ... Albinism Society of Kenya estimates a figure of between 10,000 and 30,000 persons with albinism in Kenya, but these figures are ... Organisations such as Albinism Society of Kenya (ASK) have been established to create awareness about albinism and to fight for ... "Our Projects". Albinism Society of Kenya. Retrieved 2019-07-15. "For people with albinism living in Africa, Kenya offers a ...
https://en.wikipedia.org/wiki/Mwaura_Isaac_Maigua
Chromosome 15Chromosome 15
... oculocutaneous albinism II (pink-eye dilution homolog, mouse) PDCD7: encoding protein Programmed cell death protein 7 PIF1: ...
https://en.wikipedia.org/wiki/Chromosome_15
List of MeSH codes (C18)List of MeSH codes (C18)
... albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH C18.452.648.066.102.100 - albinism, oculocutaneous MeSH C18.452. ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
List of MeSH codes (C16)List of MeSH codes (C16)
... albinism MeSH C16.320.290.040.090 - albinism, ocular MeSH C16.320.290.040.100 - albinism, oculocutaneous MeSH C16.320.290.040. ... albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH C16.320.565.066.102.100 - albinism, oculocutaneous MeSH C16.320. ... albinism MeSH C16.320.850.080.090 - albinism, ocular MeSH C16.320.850.080.100 - albinism, oculocutaneous MeSH C16.320.850.080. ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
Equine coat color geneticsEquine coat color genetics
Mutations in the human Matp gene result in several distinct forms of Oculocutaneous albinism, Type IV as well as normal ...
https://en.wikipedia.org/wiki/Equine_coat_color_genetics
Oculocutaneous albinism: MedlinePlus GeneticsOculocutaneous albinism: MedlinePlus Genetics
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Explore ... Genetic Testing Registry: Oculocutaneous albinism type 4 *Genetic Testing Registry: Tyrosinase-negative oculocutaneous albinism ... medlineplus.gov/genetics/condition/oculocutaneous-albinism/ Oculocutaneous albinism. ... Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected ...
https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/
A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs | PLOS ONEA Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs | PLOS ONE
The WDP phenotype closely resembles human oculocutaneous albinism (OCA) and clinicians noticed a seemingly high prevalence of ...
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0092127
Evaluation of choroidal thickness among patients with oculocutaneous albinism | British Journal of OphthalmologyEvaluation of choroidal thickness among patients with oculocutaneous albinism | British Journal of Ophthalmology
Download the citation for this article by clicking on one of the following citation managers:. ...
https://bjo.bmj.com/content/98/8/1135.1.citation-tools
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. |...A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. |...
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ... A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ... A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. ...
https://jmg.bmj.com/content/28/7/464.share
A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy ...A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy ...
... oculocutaneous albinism and thrombocytopathy. Authors. TRIZULJAK Jakub DOUBKOVÁ Martina HRAZDIROVÁ Anna VRZALOVÁ Zuzana ... A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy ... Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder associated with oculocutaneous albinism, bleeding diathesis ...
https://www.med.muni.cz/en/research-and-development/research-and-development/publishing-activity/publikace-lf-mu/1609437
Statistics for Oculocutaneous and Ocular AlbinismStatistics for Oculocutaneous and Ocular Albinism
There are three types of oculocutaneous albinism based on the gene involved. These types of oculocutaneous albinism have ... To estimate the albinism statistics in a country, you just have to multiply the prevalence rate to the whole population of that ... About 1 in 17,000 people is affected by some form of albinism. ... Provides the prevalence of ocular and oculocutaneous albinism ... Oculocutaneous Albinism Statistics. [ad#co-1]. Oculocutaneous albinism is the most common form of albinism with symptoms ...
http://www.thebrightesthub.com/statistics-for-oculocutaneous-and-ocular-albinism/
Albinism Clinical Presentation: History, Physical, CausesAlbinism Clinical Presentation: History, Physical, Causes
Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. ... Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ... Conditions associated with albinism and not because of close linkage. HPS includes oculocutaneous albinism, platelet granule ...
https://www.medscape.com/answers/1200472-193084/what-is-oculocutaneous-albinism-2-oca-2
Oculocutaneous albinismOculocutaneous albinism
... albinism. Eight nonsyndromic types of albinism, numbered as oculocutaneous albinism type 1 (OCA1) to oculocutaneous albinism ... Oculocutaneous albinism. Oculocutaneous albinism. Authors:. C Gail Summers, MD. Jennifer L Hand, MD. Section Editor:. Moise L ... Oculocutaneous albinism type 3 (OCA3; MIM #203290) is caused by mutations in TYRP1 at 9p23. Oculocutaneous albinism type 4 ( ... Oculocutaneous albinism type 3 (OCA3) occurs in approximately 1 in 8500 African individuals [20]. Oculocutaneous albinism type ...
https://medilib.ir/uptodate/show/15469
Albinism, OculocutaneousAlbinism, Oculocutaneous
... Synonym(s) - Albinism, Tyrosinase-Negative - Albinism, Yellow-Mutant - Oculocutaneous Albinism - ... Tyrosinase-Negative Albinism - Yellow-Mutant Albinism Definition: Heterogeneous group of autosomal recessive disorders ...
https://www.provisu.ch/cgi/fr/maladies.pl?en+alp+A+C17.800.621.440.102.100+syn
MC1R gene: MedlinePlus GeneticsMC1R gene: MedlinePlus Genetics
Oculocutaneous albinism. Certain genetic changes in the MC1R gene modify the appearance of people with oculocutaneous albinism ... People with genetic changes in both the OCA2 and MC1R genes have many of the usual features of oculocutaneous albinism type 2; ... MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003 Sep;73(3):638-45. ... type 2. This form of albinism, which is caused by mutations in the OCA2 gene, is characterized by fair hair, light-colored eyes ...
https://medlineplus.gov/genetics/gene/mc1r/
Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability...Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability...
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ... Dhangar, S., Panchal, P., Ghatanatti, J. et al. Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an ... Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J Investig Dermatol. 1996;106(5): ...
https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-01152-1
Rufous oculocutaneous albinism - Rare Psychiatry NewsRufous oculocutaneous albinism - Rare Psychiatry News
PubMed is a searchable database of medical literature and lists journal articles that discuss Rufous oculocutaneous albinism. ...
https://www.rarepsychiatrynews.com/rarediseases/rufous-oculocutaneous-albinism/
IMSEAR at SEARO: Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring.
Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring.. Authors: Jethani, Jitendra. Parija, ... Jethani J, Parija S, Shetty S, Vijayalakshmi P. Duane retraction syndrome associated with oculocutaneous albinism: an ocular ...
https://imsear.searo.who.int/handle/123456789/71592
Coat Colour, Albinism, Oculocutaneous Type IV - DogWellNetCoat Colour, Albinism, Oculocutaneous Type IV - DogWellNet
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Anim Genet 48:619-621, 2017. Pubmed ... A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs. PLoS One 9:e92127, 2014. Pubmed ... Wijesena, H.R., Schmutz, S.M. : A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog ...
https://dogwellnet.com/ctp/phenes/72-coat-colour-albinism-oculocutaneous-type-iv/?breeds=343
Oculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene Test - PreventionGeneticsOculocutaneous Albinism in Griscelli syndrome via the MYO5A Gene Test - PreventionGenetics
If the phenotype is mainly restricted to the eyes and the optic system, it is referred to as ocular albinism (OA) (Gargiulo et ... 1997). MYO5A-associated GS is described as characteristic albinism with a severe developmental delay and mental retardation ... The eye and optic system abnormalities that are common to all types of albinism are nystagmus, photophobia, strabismus, ... Oculocutaneous albinism (OCA) is an inherited disorder caused by deficiency in melanin synthesis that results in ...
https://www.preventiongenetics.com/testInfo?val=Oculocutaneous-Albinism-in-Griscelli-syndrome-via-the-MYO5A-Gene
Clinical Utility Gene Card | European Journal of Human GeneticsClinical Utility Gene Card | European Journal of Human Genetics
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update *Abdullah Aamir ...
https://www.nature.com/ejhg/articles?type=clinical-utility-gene-card&error=cookies_not_supported&code=7be0f6cc-4db1-4ef7-9b03-646c4599e8e3
Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature...Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature...
Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature ... complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature. "Angelman syndrome" "P gene" and " ... "Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to ... Two cases had a family history of albinism. Electroencephalogram monitoring was completed in 3 cases and the results were ...
https://pesquisa.bvsalud.org/perinatal/resource/pt/mdl-36718709
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues | African Journal...Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues | African Journal...
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and p Oculocutaneous albinism in southern ... Psychology; Developmental Disabilities; Albinism; Health; Albinism, Oculocutaneous; Epidemiology; Genetics albinism and Africa ... Full text: Available Index: AIM (Africa) Main subject: Psychology / Developmental Disabilities / Albinism / Health / Albinism, ... Full text: Available Index: AIM (Africa) Main subject: Psychology / Developmental Disabilities / Albinism / Health / Albinism, ...
https://search.bvsalud.org/aimafro/resource/en/biblio-1397079
Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation | NCI Technology Transfer Center | TTCTreatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation | NCI Technology Transfer Center | TTC
In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. In ocular albinism, only the eyes lack pigment ... Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation. Primary tabs. *View published(active tab) ... Brooks, B.P. Nitisinone for Type 1B Oculocutaneous Albinism. ClinicalTrials.gov Identifier: NCT01838655 ... for oculocutaneous albinism or as a treatment for increasing pigmentation in the eyes, hair and/or skin of patients. ...
https://techtransfer.cancer.gov/availabletechnologies/e-113-2010
WDR45 WD repeat domain 45 [Homo sapiens (human)] - Gene - NCBIWDR45 WD repeat domain 45 [Homo sapiens (human)] - Gene - NCBI
Oculocutaneous albinism type 7 MedGen: C3808786 OMIM: 615179 GeneReviews: Not available Compare labs ...
https://www.ncbi.nlm.nih.gov/gene/11152
Applying Public Health Strategies to Primary Immunodeficiency Diseases: A Potential Approach to Genetic DisordersApplying Public Health Strategies to Primary Immunodeficiency Diseases: A Potential Approach to Genetic Disorders
Patients have partial oculocutaneous albinism and often experience overwhelming and fatal infections with Epstein-Barr virus. ...
https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5301a1.htm
Syndromic Sensorineural Hearing Loss Clinical Presentation: History, Physical, CausesSyndromic Sensorineural Hearing Loss Clinical Presentation: History, Physical, Causes
Albinism is due to defects in the biosynthesis and distribution of melanin. Oculocutaneous albinism is an autosomal recessive ... Most cases associated with SNHL are of the oculocutaneous form with hearing loss that varies in degree of severity. ...
https://emedicine.medscape.com/article/856116-clinical
Embark Dog DNA Test - Breed
This gene causes oculocutaneous albinism (OCA), also known as Doberman Z Factor Albinism. Dogs with a DD result will have OCA. ...
https://my.embarkvet.com/dog/bandit1229
Albinism - Partial Absence of Pigment in the SkinAlbinism - Partial Absence of Pigment in the Skin
Albinism is a condition marked by reduced production of melanin, the pigment that provides color to the hair, skin, and eyes of ... Types of Albinism. There are two main types of albinism:. *Oculocutaneous (OCA): decreased pigment in the hair, skin, and eyes. ... X-linked ocular albinism refers to the location of the albinism gene, which is on the X chromosome. Women have two X ... X-linked ocular albinism is much more common in males and is passed on from women who have the gene but do not show symptoms to ...
https://www.news-medical.net/health/Albinism-Partial-Absence-of-Pigment-in-the-Skin.aspx
Cancer Genetics Overview (PDQ®)-Health Professional Version | Vanderbilt-Ingram Cancer CenterCancer Genetics Overview (PDQ®)-Health Professional Version | Vanderbilt-Ingram Cancer Center
Oculocutaneous Albinism (Genetics of Skin Cancer).. *Oligopolyposis (Genetics of Colorectal Cancer).. *Paraganglioma, ...
https://www.vicc.org/cancer-info/cancer-genetics-overview-pdq%C2%AE%E2%80%93health-professional-version
2022 Visual System Development Conference GRC2022 Visual System Development Conference GRC
Modeling of Human Oculocutaneous Albinism Using iPSC-derived RPE 9:25 pm - 9:30 pm. Discussion ...
https://www.grc.org/visual-system-development-conference/2022/
Diseases BrowserDiseases Browser
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A. 203100. 4. ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2. 203200. 2. ...
https://www.coriell.org/0/Sections/BrowseCatalog/Diseases.aspx?PgId=3
Skin cancers in people with albinism in Togo in 2019: results of two rounds of national mobile skin care clinics | Research...Skin cancers in people with albinism in Togo in 2019: results of two rounds of national mobile skin care clinics | Research...
In people with albinism (PWA), the deficiency of melanin increase the risk of skin cancers. The aim of this study was to ... Sengupta M, Sarkar D, Mondal M, Samanta S, Sil A, Ray K. Analysis of MC1R variants in Indian oculocutaneous albinism patients: ... Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowens disease and actinic keratosis. J Dermatol ... Multiple Basal Cell Carcinomas in a Patient of Oculocutaneous Albinism. Indian Dermatol Online J 2017; 8: 134-5. ...
https://www.researchsquare.com/article/rs-25729/v3
Identification and Characterization of a DNase Hypersensitive Region of the Human Tyrosinase Gene<...Identification and Characterization of a DNase Hypersensitive Region of the Human Tyrosinase Gene<...
N2 - Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are compound ... AB - Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are compound ... Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are compound ... abstract = "Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are ...
https://experts.umn.edu/en/publications/identification-and-characterization-of-a-dnase-hypersensitive-reg
OCA2GeneRufousMelaninGeneticDisorderOCA1HypopigmentationMutationsForms of albinismPigmentVisual acuityPeople with albForm of albinismPigmentationSubtypesOCA4ClinicalGriscelliTypeSyndromeDisordersMutationSunburnPhotophobiaIndividual with albinismClassification of albinismVariantsPrevalenceAffectsTypesSevereAfricaGenesDepigmentationSkinIndividualsPatientsPhenotypeSymptoms of the condition
OCA29
  • Oculocutaneous albinism can result from variants (also known as mutations) in several genes, including TYR , OCA2 , TYRP1 , and SLC45A2 . (medlineplus.gov)
  • The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. (medlineplus.gov)
  • Oculocutaneous albinism type 2 (OCA2) is the most common type of albinism worldwide, due to its high prevalence in sub-Saharan Africa, where prevalence ranges from as low as 1 in 15,000 in Nigeria to as high as 1 in 1000 in selected Zimbabwean populations [ 12,14,15 ]. (medilib.ir)
  • OCA1 and OCA2 are the most common types of albinism in the United States. (medilib.ir)
  • Among Chinese individuals with albinism, approximately 70 percent have OCA1, 10 percent have OCA2, 13 percent have OCA4, and 2 percent have Hermansky-Pudlak syndrome type 1 (HPS1) [ 25 ]. (medilib.ir)
  • This form of albinism, which is caused by mutations in the OCA2 gene, is characterized by fair hair, light-colored eyes, creamy white skin, and vision problems. (medlineplus.gov)
  • To summarize the clinical diagnosis and treatment process and genetic test results and characteristics of one child with Angelman syndrome (AS) complicated with oculocutaneous albinism type 2 (OCA2), and to review the literature . (bvsalud.org)
  • The cause of amelanism in these snakes was recently identified as the insertion of a transposable element into an intron in the OCA2 (oculocutaneous albinism) gene. (lumenlearning.com)
  • The four types of oculocutaneous albinism (OCA1, OCA2, OCA4, and XLOA) all feature visual impairment and varying degrees of iris/retinal depigmentation. (medscape.com)
Gene20
  • Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. (medlineplus.gov)
  • A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. (bmj.com)
  • There are three types of oculocutaneous mutation based on the specific gene involved: OCA types 1, 2, and 3. (thebrightesthub.com)
  • This type of oculocutaneous mutation is caused by a defect in a gene located in human chromosome 11 and is inherited as an autosomal recessive trait, which means that an individual must inherit 2 defective genes from his/her parents for the disorder to occur. (thebrightesthub.com)
  • Ocular albinism is an X-linked genetic disorder, meaning the defective gene (GPR143 gene) is located in the X chromosome. (thebrightesthub.com)
  • A male automatically develop ocular albinism once he inherits an X chromosome with the defective gene. (thebrightesthub.com)
  • Females have lower chance of inheriting the gene for ocular albinism than males. (thebrightesthub.com)
  • OCA 1B (yellow mutant OCA, Amish albinism, xanthous albinism) is produced by leaky mutations of the tyrosinase gene that result in reduced/residual enzyme activity. (medscape.com)
  • The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production. (medscape.com)
  • CLASSIFICATION AND TERMINOLOGY - The classification of albinism by causative gene is preferred over older terms such as "partial" or "complete" albinism, "perfect" or "imperfect" albinism, "tyrosinase-positive" or "tyrosinase-negative" albinism, and "yellow mutant" or "rufous" albinism. (medilib.ir)
  • Certain genetic changes in the MC1R gene modify the appearance of people with oculocutaneous albinism type 2. (medlineplus.gov)
  • Angelman syndrome " "P gene " and " Oculocutaneous albinism type 2" were used as keywords to search at CNKI, Wanfang, and PubMed databases (from creation to December 2019). (bvsalud.org)
  • Albinism is passed on via a gene mutation from parents to children. (news-medical.net)
  • X-linked ocular albinism refers to the location of the albinism gene, which is on the X chromosome. (news-medical.net)
  • X-linked ocular albinism is much more common in males and is passed on from women who have the gene but do not show symptoms to the son who only has one X-chromosome. (news-medical.net)
  • Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). (umn.edu)
  • Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing. (stanford.edu)
  • Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. (stanford.edu)
  • Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene . (arizona.edu)
  • Albinism is a hereditary condition of recessive genetic alleles (two or more alternative forms of the same gene found in the same position on each homologous chromosome), and is commonly an autosomal recessive disorder . (vitiligo.com)
Rufous5
  • Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. (medlineplus.gov)
  • Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. (medlineplus.gov)
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rufous oculocutaneous albinism. (rarepsychiatrynews.com)
  • However, the hair is often copper-red in color which has given rise to the designation rufous oculocutaneous albinism. (arizona.edu)
  • This tyrosinase-positive type of albinism is sometimes called 'rufous' (ROCA) or 'brown' (BOCA) oculocutaneous albinism and is frequently found in dark-skinned individual such as Africans, African-Americans, and Hispanics. (arizona.edu)
Melanin15
  • A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. (medlineplus.gov)
  • Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. (medscape.com)
  • Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. (medscape.com)
  • INTRODUCTION - Oculocutaneous albinism (OCA) is a group of rare genetic disorders of melanin biosynthesis inherited in an autosomal recessive pattern [ 1 ]. (medilib.ir)
  • Oculocutaneous albinism (OCA) is an autosomal recessive disorder that occurs due to deficiency of melanin biosynthesis resulting in generalized hypo-pigmentation of skin, eyes, and hair [ 1 ]. (biomedcentral.com)
  • Oculocutaneous albinism (OCA) is an inherited disorder caused by deficiency in melanin synthesis that results in hypopigmentation of the skin, eyes, and hair. (preventiongenetics.com)
  • Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. (cancer.gov)
  • Albinism is a condition marked by reduced production of melanin, the pigment that provides color to the hair, skin, and eyes of an individual. (news-medical.net)
  • In people with albinism (PWA), the deficiency of melanin increase the risk of skin cancers. (researchsquare.com)
  • Albinism is an inherited disorder where melanin (pigment) is decreased or absent. (prcvi.org)
  • So far, there is not any solution to complement melanin in people with albinism or to pressure the physique to make it. (musicmarkup.info)
  • They are not freckles or spots of melanin, explains William Oetting, a professor on the University of Minnesota who has researched albinism genetics. (musicmarkup.info)
  • Albinism is a congenital disease characterized by the complete or partial absence of melanin. (vitiligo.com)
  • This type of albinism is caused by a reduction and altered distribution of the melanin pigment in the eye, particularly in the iris and retina. (vitiligo.com)
  • As mentioned above, albinism is the complete or partial absence of melanin, in vitiligo it is only a part of the skin that loses pigment . (vitiligo.com)
Genetic9
  • Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. (medlineplus.gov)
  • Albinism or medically known as congenital hypopigmentary disorder is a genetic disease that affects people from all races. (thebrightesthub.com)
  • With the availability of new molecular genetic studies, the classification of albinism has shifted emphasis to genotype as opposed to phenotype alone. (medscape.com)
  • Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review]. (bvsalud.org)
  • This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology , genetics and genetic counselling, health , psychosocial and cultural issues, and medical care . (bvsalud.org)
  • In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community , to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life . (bvsalud.org)
  • Albinism is a genetic condition affecting approximately 1/17,000 people worldwide [2]. (researchsquare.com)
  • Vitiligo, in most cases, is an acquired disease, while albinism is a genetic disease. (vitiligo.com)
  • Among the causes of aut ism, there are associations with genetic and congenital conditions such as: lactic acidosis, oculocutaneous albinism, change in purines, hearing impairments, progressive muscular dystrophy, tuberous sclerosis and phenylketonuria. (bvsalud.org)
Disorder5
  • Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. (muni.cz)
  • Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. (biomedcentral.com)
  • As albinism is an inherited condition, it is important that affected individuals and their families receive adequate information about the genetics of the disorder for future family planning. (news-medical.net)
  • Dilution, Pigmentary, also known as hypopigmentation , is related to oculocerebral syndrome with hypopigmentation and tietz albinism-deafness syndrome , and has symptoms including achromia of skin The drugs Fluorouracil and Antimetabolites have been mentioned in the context of this disorder. (malacards.org)
  • Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin). (jacpjournal.org)
OCA12
  • Oculocutaneous albinism type 1 (OCA1) has an overall prevalence of approximately 1 in 40,000 but is extremely uncommon in Africa and more common among African-Americans [ 19 ]. (medilib.ir)
  • Eight nonsyndromic types of albinism, numbered as oculocutaneous albinism type 1 (OCA1) to oculocutaneous albinism type 8 (OCA8), have been recognized ( table 1 ) [ 31 ]. (medilib.ir)
Hypopigmentation1
  • Affected cattle showed an oculocutaneous hypopigmentation (OH) with a pale blue iris and a tan periphery coupled with a change in coat color from black to chocolate. (biomedcentral.com)
Mutations1
  • Certain forms of albinism are known to be due to mutations in tyrosine metabolism. (cancer.gov)
Forms of albinism4
  • There are two forms of albinism: the Oculocutaneous albinism (OCA) and Ocular albinism. (thebrightesthub.com)
  • Patients with more severe forms of albinism with cutaneous manifestations are easier for a physician to diagnose compared with those with more subtle forms or those with ocular albinism. (medscape.com)
  • The ophthalmologist plays an important role in detecting albinism because most forms of albinism present with ocular features as the primary morbidity. (medscape.com)
  • NEI investigators identified administration of NTBC to subjects (e.g., mice or humans) with certain forms of albinism, can result in increased circulating tyrosine levels, an increase in tyrosinase activity, and, subsequently, increased pigmentation. (cancer.gov)
Pigment6
  • The eye and optic system abnormalities that are common to all types of albinism are nystagmus, photophobia, strabismus, moderate to severe impairment of visual acuity, reduced iris pigment with iris translucency, reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination, refractive errors and altered visual evoked potentials (VEP). (preventiongenetics.com)
  • In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair. (cancer.gov)
  • In ocular albinism, only the eyes lack pigment. (cancer.gov)
  • Ocular albinism: decreased pigment primarily in the eyes, with minimal change to the hair and skin color. (news-medical.net)
  • The production of pigment and vision development of an individual with albinism cannot be cured. (news-medical.net)
  • Retrieved on November 28, 2022 from https://www.news-medical.net/health/Albinism-Partial-Absence-of-Pigment-in-the-Skin.aspx. (news-medical.net)
Visual acuity4
  • Its deficiency in people with albinism (PWA) makes them at-risk to the harmful effects of radiation, namely photophobia, impaired visual acuity and skin cancers. (researchsquare.com)
  • Albinism varies widely in its severity, but individuals with albinism have reduced visual acuity, reduced or no depth perception, and sensitivity to light and glare (Schwartz, 2010) as well as nystagmus (Cassin & Rubin, 2012, p. 27). (prcvi.org)
  • Oculocutaneous albinism gives variable ocular signs, including nystagmus, photophobia and reduced visual acuity. (vitiligo.com)
  • Inspecting the iris for transillumination and the retina for findings compatible with albinism is useful, as is visual-acuity testing. (medscape.com)
People with alb12
  • An example is the east African country Tanzania which has an estimated 200,000 people with albinism. (thebrightesthub.com)
  • From 2006-2008, more than 57 Tanzanian people with albinism were attacked, mutilated, or killed for their highly priced body parts used by witchdoctors to make "magical potions. (thebrightesthub.com)
  • This is an example on how people with albinism are being persecuted in the name of witchcraft. (thebrightesthub.com)
  • Read the article on famous people with albinism. (thebrightesthub.com)
  • It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. (bvsalud.org)
  • The lack of pigmentation in the skin also increases the risk of sunburn and skin cancer in people with albinism. (news-medical.net)
  • Relying on imaginative and prescient, choice and local laws, people with albinism can drive beneath sure street circumstances, with the usage of bioptics. (musicmarkup.info)
  • Poor vision can limit careers for people with albinism, however most limits will be overcome with expertise, adaptation and dedication. (musicmarkup.info)
  • Even worse for Africans with albinism, harmful myths are circulating in Kenya, Tanzania, Zimbabwe and other nations that perpetuate the raping, killing and dismemberment of people with albinism. (musicmarkup.info)
  • With out safety, people with albinism will develop pores and skin injury and skin most cancers. (musicmarkup.info)
  • It's imperative that people with albinism protect their skin from the sun. (musicmarkup.info)
  • People with albinism can sunburn on cloudy days because UV rays permeate clouds, Ciocca says. (musicmarkup.info)
Form of albinism2
  • Statistically, about 1 in 17,000 people suffer from some form of albinism. (thebrightesthub.com)
  • Oculocutaneous albinism is the most common form of albinism with symptoms affecting the skin, eyes, and hair. (thebrightesthub.com)
Pigmentation6
  • Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. (medlineplus.gov)
  • An individual with this type of albinism lacks pigmentation in the irises and has vision problems. (thebrightesthub.com)
  • Occasionally, a moderate amount of residual activity can lead to near normal skin pigmentation and the wrong diagnosis of ocular albinism. (medscape.com)
  • The National Eye Institute's Ophthalmic Genetics and Visual Function Branch seeks interested commercial parties to co-develop the use of nitisinone (NTBC) for oculocutaneous albinism or as a treatment for increasing pigmentation in the eyes, hair and/or skin of patients. (cancer.gov)
  • Photophobia is less severe than in other types of oculocutaneous albinism, possibly because the vast majority of individuals (86%) have some pigmentation in the fundus. (arizona.edu)
  • Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. (biomedcentral.com)
Subtypes2
  • The albinism subtypes were reclassified in 2009. (medscape.com)
  • There are several subtypes of oculocutaneous albinism that vary in severity. (prcvi.org)
OCA41
  • Oculocutaneous albinism type 4 (OCA4), first described in a Turkish individual, occurs in 5 to 8 percent of German and in 18 to 30 percent of Japanese individuals with albinism [ 21-24 ]. (medilib.ir)
Clinical1
  • Traditionally, albinism has been classified according to clinical phenotype, and the 2 main categories are oculocutaneous albinism (OCA) and ocular albinism (OA). (medscape.com)
Griscelli1
  • The overlapping syndromic albinism such as Hermansky-Pudlak syndrome (HPS), Griscelli syndrome (GS), and Chediak-Higashi syndrome (CHS) have also been reported. (biomedcentral.com)
Type7
  • Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. (medlineplus.gov)
  • Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. (medlineplus.gov)
  • Statistics for OCA type 2 albinism shows that there is 1 affected individual per 15,000 people. (thebrightesthub.com)
  • Oculocutaneous albinism type 3 (OCA3) occurs in approximately 1 in 8500 African individuals [ 20 ]. (medilib.ir)
  • Oculocutaneous albinism type 5 (OCA5) has been reported in a Pakistani family, oculocutaneous albinism type 6 (OCA6) has been described in a Chinese cohort, and oculocutaneous albinism type 7 (OCA7) has been described in a family from the Faroe Islands and in a Lithuanian individual [ 27-29 ]. (medilib.ir)
  • Oculocutaneous albinism type 8 (OCA8) has been described in a French girl and a North African woman [ 30 ]. (medilib.ir)
  • Brooks, B.P. Nitisinone for Type 1B Oculocutaneous Albinism. (cancer.gov)
Syndrome6
  • Albinism is a symptom of Waardenberg syndrome, Chediak-Higashi syndrome, tuberous sclerosis, and Hermansky-Pudlak syndrome. (thebrightesthub.com)
  • IMSEAR at SEARO: Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (who.int)
  • Jethani J, Parija S, Shetty S, Vijayalakshmi P. Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring. (who.int)
  • The ultrastructure of ceroid-lipofuscin inclusions in macrophages in bone marrow, gut, and other tissues can be helpful, but the absence of dense granules in the platelets in association with albinism is diagnostic for Hermansky-Pudlak syndrome. (medscape.com)
  • All patients with Hermansky-Pudlak syndrome have tyrosine-positive albinism. (medscape.com)
  • Some studies have reported that patients with albinism have a decreased bone density when compared with age-corrected control subjects, but the role of testing for bone density is unclear in Hermansky-Pudlak syndrome. (medscape.com)
Disorders1
  • As shown in Table 2, two major disorders exist in this category, ocular albinism 1 (OA 1) and autosomal recessive ocular albinism (AROA). (medscape.com)
Mutation1
  • Wijesena, H.R., Schmutz, S.M. : A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds. (dogwellnet.com)
Sunburn1
  • It is important for people prone to albinism to prevent sunburn and to have regular skin checks by a dermatologist, as they are exposed to an increased risk of skin cancer. (vitiligo.com)
Photophobia1
  • Patients with albinism experience varying degrees of vision loss associated with foveal hypoplasia, nystagmus, photophobia and/or glare sensitivity, refractive errors, and abnormal decussation of ganglion cell axons at the optic chiasm. (cancer.gov)
Individual with albinism2
  • An individual with albinism is commonly called "albino. (thebrightesthub.com)
  • It can affect individuals from any racial background and, in most cases, the parents of the individual with albinism do not have physical signs of the condition. (news-medical.net)
Classification of albinism1
  • The following is a brief overview of the current classification of albinism. (medscape.com)
Variants1
  • Some individuals with oculocutaneous albinism do not have variants in any of the known genes. (medlineplus.gov)
Prevalence1
  • EPIDEMIOLOGY - The overall prevalence of albinism in the Western world is estimated to be 1 in 17,000 to 1 in 20,000, with ample variations across ethnic groups and geographic regions. (medilib.ir)
Affects4
  • Albinism is not a common condition and affects approximately 1 in 17,000 people. (news-medical.net)
  • Oculocutaneous albinism (OCA) affects pores and skin and hair shade. (musicmarkup.info)
  • Ocular albinism (OA) affects imaginative and prescient. (musicmarkup.info)
  • Instead, ocular albinism mainly affects the eyes. (vitiligo.com)
Types2
  • Several types of albinism are recognized. (medscape.com)
  • These ocular changes are common to all types of albinism. (medscape.com)
Severe1
  • 1997). MYO5A -associated GS is described as characteristic albinism with a severe developmental delay and mental retardation that occurs early in life (Ménasché et al. (preventiongenetics.com)
Africa1
  • In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition . (bvsalud.org)
Genes1
  • On the other hand, a female will only develop ocular albinism if she inherits 2 X chromosomes with the defective genes. (thebrightesthub.com)
Depigmentation1
  • Albinism is an inherited condition associated with significant depigmentation of the skin , hair and eyes . (bvsalud.org)
Skin2
  • The physical characteristics associated with albinism , that is, sun -sensitive skin and low vision , can be managed. (bvsalud.org)
  • Albinism may affect only the eyes (ocular) or may affect the eyes, skin, and hair (oculocutaneous). (prcvi.org)
Individuals2
  • Discrimination against individuals with albinism is more prominent in some parts of the world [ 3-8 ]. (medilib.ir)
  • Intelligence is unaffected by albinism, although individuals may require aids to help them see more clearly. (news-medical.net)
Patients2
  • All patients with symptoms suggestive of Oculocutaneous albinism with developmental delay are candidates. (preventiongenetics.com)
  • Hair bulb incubation test can be used to classify patients with albinism into tyrosinase negative or tyrosinase positive. (medscape.com)
Phenotype1
  • If the phenotype is mainly restricted to the eyes and the optic system, it is referred to as ocular albinism (OA) (Gargiulo et al. (preventiongenetics.com)
Symptoms of the condition1
  • People affected by albinism often have difficult coping with the symptoms of the condition, particularly visual difficulties. (news-medical.net)