Albinism, Oculocutaneous
Albinism
Monophenol Monooxygenase
Hermanski-Pudlak Syndrome
Hypopigmentation
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.
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)
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
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
Catechol Oxidase
Melanins
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
Adaptor Protein Complex beta Subunits
Mutation
Pedigree
Folklore
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)
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.
Phenotype
Membrane Proteins
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 dictionary
Oculocutaneous albinism type 4 | definition of oculocutaneous albinism type 4 by Medical dictionary
Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism | IOVS | ARVO Journals
Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. | IOVS | ARVO...
Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations inTYRP1Gene in Two Chinese Patients | SpringerLink
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 - NCBI
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population | Orphanet...
Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter | Genetics
Repository of UOI Olympias: Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage...
albinism III | Hereditary Ocular Diseases
Albinism oculocutaneous tyrosinase-positive - Altmeyers Encyclopedia - Department Dermatology
Albinism
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of...
Refractive profile in oculocutaneous albinism and its correlation with final visual outcome | British Journal of Ophthalmology
Proceedings of the Royal Society of London B: Biological Sciences
William & Mary
- Visually Impaired/Blind
Gene Ontology Classifications
Search
SLC45A2 - Wikipedia
Membrane-associated transporter protein
Tyrosinase-Related Protein 1 - CAGS
Transforming Growth Factor-Beta-Induced Factor - CAGS
Forskjell mellom sidene «Fremre segment og iris» og «Fleischer-ring» - JournalWiki
Trial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.gov
Trial of L-DOPA as a Treatment to Improve Vision in Albinism - Full Text View - ClinicalTrials.gov
OCA4 | Hereditary Ocular Diseases
Two patients with Hermansky Pudlak Syndrome Type 2 and novel mutations in AP3B1 | Haematologica
Nearly Blind Baby Sees Mom for the First Time, and His Heart-Melting Reaction Makes Film Producer Dad Almost Drop Camera -...
Baby Leopold Has the Cheeziest Grin After Special Glasses Allow Him to See for the First Time - Parenting - crazy parenting...
UniProtKB/SwissProt variant VAR 022714
MATP (Demonstration Contest) - MATP (Motor Activity Training Program)
Growing Oca: Oca as a Late-Planted Crop… Seems to Work
Outback Futures Project Moves Forward | OCA
Ocular albinism - Wikipedia
The Difference Between Albinism, Leucism & Isabellinism - KnowledgeNuts
Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns ...
Animals with albinism - definition of Animals with albinism by The Free Dictionary
Osteoporosis and Oculocutaneous Hypopigmentation Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohns Disease...
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Oculocutaneous 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 ...
Oculocutaneous 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 ...
Albinism 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. ...
Leucism
"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 ...
Melanin
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 ...
List 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 ...
Human 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 ...
Emma Foy
Foy was born with oculocutaneous albinism. Of Māori descent, she affiliates to the Ngāpuhi iwi. "Rio Paralympics: NZ goes out ...
TYRP1
... 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. ...
Albinism 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 ...
Chédiak-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 ...
Axenfeld-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 ...
Membrane-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. ...
Albinism
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 ...
OCA2
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, ...
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 ...
Ocular 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 ...
Chelsey Gotell
She has oculocutaneous albinism which causes her to have poor vision. Gotell was born and raised in Antigonish, Nova Scotia. ...
Hermansky-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: ...
Tiger 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 ...
Trichomegaly
"A case of familial trichomegaly in association with oculocutaneous albinism type 1". Eye. 18 (8): 863-864. doi:10.1038/sj.eye. ...
Melanocyte
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. ...
Dog 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 ...
Kelly Gallagher (alpine skier)
Gallagher has oculocutaneous albinism, is visually impaired and competes with a sighted guide. At the 2009 New Zealand Winter ...
Persecution 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 ...
Microcephaly 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/ ...
Dobermann
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 ...
Sophie Thornhill
She has only 7-9% vision owing to oculocutaneous albinism, which causes visual impairment. She met the para-cyclist Anthony ...
Western 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 ...
Nicole Esdaile
... and has a visual disability called oculocutaneous albinism. Esdaile is a goalball player, and is classified as a B2 competitor ...
White 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 ...
List 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 ...
White 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, ...
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 ...
Amelanism
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 ...
Dorothy Trump
... including X-linked congenital stationary night blindness and oculocutaneous albinism. She left Cambridge for Manchester in 2003 ...
Renata Laxova
"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., ...
Major facilitator superfamily
... underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981-8. doi:10.1086/324340. ...
HPS4
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary ...
Mwaura 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 ...
Chromosome 15
... oculocutaneous albinism II (pink-eye dilution homolog, mouse) PDCD7: encoding protein Programmed cell death protein 7 PIF1: ...
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. ...
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. ...
Equine coat color genetics
Mutations in the human Matp gene result in several distinct forms of Oculocutaneous albinism, Type IV as well as normal ...
Oculocutaneous 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 ...
A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs | PLOS ONE
Evaluation of choroidal thickness among patients with oculocutaneous albinism | British Journal of Ophthalmology
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 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 ...
Statistics 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 ...
Albinism 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 ...
Oculocutaneous 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 ...
Albinism, Oculocutaneous
MC1R 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 ...
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): ...
Rufous oculocutaneous albinism - Rare Psychiatry News
IMSEAR at SEARO: Duane retraction syndrome associated with oculocutaneous albinism: an ocular miswiring.
Coat 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 ...
Oculocutaneous 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 ...
Clinical Utility Gene Card
| European Journal of Human Genetics
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 ...
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, ...
Treatment 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. ...
WDR45 WD repeat domain 45 [Homo sapiens (human)] - Gene - NCBI
Applying Public Health Strategies to Primary Immunodeficiency Diseases:
A Potential Approach to Genetic Disorders
Syndromic Sensorineural Hearing Loss Clinical Presentation: History, Physical, Causes
Embark Dog DNA Test - Breed
Albinism - 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 ...
Cancer Genetics Overview (PDQ®)-Health Professional Version | Vanderbilt-Ingram Cancer Center
2022 Visual System Development Conference GRC
Diseases Browser
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. ...
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 ...
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)