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.Chromatophores: The large pigment cells of fish, amphibia, reptiles and many invertebrates which actively disperse and aggregate their pigment granules. These cells include MELANOPHORES, erythrophores, xanthophores, leucophores and iridiophores. (In algae, chromatophores refer to CHLOROPLASTS. In phototrophic bacteria chromatophores refer to membranous organelles (BACTERIAL CHROMATOPHORES).)Bacterial Chromatophores: Organelles of phototrophic bacteria which contain photosynthetic pigments and which are formed from an invagination of the cytoplasmic membrane.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.Animal Communication: Communication between animals involving the giving off by one individual of some chemical or physical signal, that, on being received by another, influences its behavior.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.Agouti Signaling Protein: A secreted protein of approximately 131 amino acids (depending on species) that regulates the synthesis of eumelanin (brown/black) pigments in MELANOCYTES. Agouti protein antagonizes the signaling of MELANOCORTIN RECEPTORS and has wide distribution including ADIPOSE TISSUE; GONADS; and HEART. Its overexpression in agouti mice results in uniform yellow coat color, OBESITY, and metabolic defects similar to type II diabetes in humans.Hair Color: Color of hair or fur.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.Oryzias: The only genus in the family Oryziinae, order BELONIFORMES. Oryzias are egg-layers; other fish of the same order are livebearers. Oryzias are used extensively in testing carcinogens.Dictionaries, MedicalHermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.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.Melanosomes: Melanin-containing organelles found in melanocytes and melanophores.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.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.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.Eye Color: Color of the iris.Visual Acuity: Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.Refractive Errors: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.Myopia: A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.Eye Injuries: Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.Refraction, Ocular: Refraction of LIGHT effected by the media of the EYE.Hyphema: Bleeding in the anterior chamber of the eye.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.China: A country spanning from central Asia to the Pacific Ocean.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.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.

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)

*SLC45A2

"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human Genetics. 74 (3 ... Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV ... GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4 This article incorporates text from the United States National ... Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript ...

*Equine coat color genetics

Mutations in the human Matp gene result in several distinct forms of Oculocutaneous albinism, Type IV as well as normal ...

*Ocular albinism

... is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are ... it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked. "Ocular albinism ... Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, ... ISBN 0-7216-2921-0. Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in ...

*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: ...

*TYRP1

... in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"". Am. J. ... 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 (1997). "Rufous oculocutaneous albinism in southern African Blacks ... Sarangarajan R, Boissy RE (2001). "Tyrp1 and oculocutaneous albinism type 3". Pigment Cell Res. 14 (6): 437-44. doi:10.1034/j. ...

*Tyrosinase

GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 1 Tyrosinase at the US National Library of Medicine Medical ... A mutation in the tyrosinase gene resulting in impaired tyrosinase production leads to type I oculocutaneous albinism, a ... and optic neuronal defects shared in all types of oculocutaneous and ocular albinism". The Alabama Journal of Medical Sciences ... Witkop CJ (Oct 1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, ...

*Oculocutaneous albinism

... (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some ... "Oculocutaneous albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism http://www.orpha. ... Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ... Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several ...

*Oculocutaneous albinism type I

... or -Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type ... of albinism is caused when the gene OCA1 does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", ...

*Cream gene

Type IV oculocutaneous albinism, like other types of human albinism, results in hypopigmentation of the skin and eyes, with ... The gene is best known in humans as being the location of a mutation that results in human type IV oculocutaneous albinism ( ... Wei Li (2008-08-30). "Oculocutaneous Albinism 4". Hermansky-Pudlak Syndrome Database. Newton, JM; Cohen-Barak O; Hagiwara N; ... Albinism Association of Australia. "What is Albinism?". Archived from the original on 2009-09-24. Retrieved 2009-11-02. Rieder ...

*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". N. Engl. J. Med ... "Oculocutaneous albinism type 2". Orphanet. Retrieved 2014-11-09. "OCA2 - oculocutaneous albinism II". Genetics Home Reference ... Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed ...

*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 ...

*Chédiak-Higashi syndrome

The syndrome is associated with oculocutaneous albinism. Persons are prone for 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. It occurs in humans ... Associated features include abnormalities in melanocytes (albinism), nerve defects, bleeding disorders. There is no specific ...

*Melanin

Another form of Albinism, the "yellow oculocutaneous albinism", appears to be more prevalent among the Amish, who are of ... Oculocutaneous Albinism Archived 2008-12-23 at the Wayback Machine. "Ocular Manifestations of Albinism" "Causes of Variability ... "oculocutaneous albinism". Genetics Home Reference. Retrieved 2017-09-25. Meredith, Paul; Sarna, Tadeusz (2006-12-01). "The ... For example, the most common type, called oculocutaneous albinism type 2 (OCA2), is especially frequent among people of black ...

*Nitisinone

Lay summary - ScienceDaily (September 26, 2011). "Nitisinone for Type 1B Oculocutaneous Albinism - Full Text View". ... and has been suggested as a possible treatment for oculocutaneous albinism. Nitisinone was discovered as part of a program to ... "Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism". Journal of Clinical ...

*Guna people

Oculocutaneous albinism: clinical, historical and anthropological aspects PMID 9759297 Alí, Maurizio. 2010: "En estado de sitio ... The Guna have a high incidence rate of albinism. In Guna mythology, albinos (or sipus) were given a special place. Albinos in ...

*Chelsey Gotell

She has oculocutaneous albinism which causes her to have poor vision. Gotell was born and raised in Antigonish, Nova Scotia. ...

*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. ... "Increasing the complexity: new genes and new types of albinism". Wiley Online Library / Pigment Cell & Melanoma Research. ...

*Kelly Gallagher (alpine skier)

Gallagher has oculocutaneous albinism, is visually impaired and competes with a sighted guide. At the 2009 New Zealand Winter ...

*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 ...

*Albinism

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. ...

*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. This information revealed the first ... Snowflake was diagnosed by scientists as having non-syndromic albinism. The genetic variant for Snowflake's albinism was ... Snowflake presented the typical traits and characteristics of albinism typically seen in humans, including white hair, pinkish ...

*Nicole Esdaile

... and has a visual disability called oculocutaneous albinism. Esdaile is a goalball player, and is classified as a B2 competitor ...

*Major facilitator superfamily

... underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981-8. doi:10.1086/324340. ...

*ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases

Albinism Oculocutaneous albinism (ILDS E70.310) Partial albinism (ILDS E70.312) Oculocutaneous albinism type 1 (tyrosinase- ... negative) (ILDS E70.314) Oculocutaneous albinism type 2 (tyrosinase positive) (ILDS E70.314) Albinoidism (ILDS E70.318) ...

*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 ... Ocular albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular histoplasmosis Ocular melanoma Ocular motility ...

*OCA

... gene associated with albinism Oculocutaneous Albinism Oxalis tuberosa, a starchy, edible tuber, grown in South America Oakland ...
Looking for online definition of Oculocutaneous albinism type 2 in the Medical Dictionary? Oculocutaneous albinism type 2 explanation free. What is Oculocutaneous albinism type 2? Meaning of Oculocutaneous albinism type 2 medical term. What does Oculocutaneous albinism type 2 mean?
Looking for online definition of oculocutaneous albinism type 4 in the Medical Dictionary? oculocutaneous albinism type 4 explanation free. What is oculocutaneous albinism type 4? Meaning of oculocutaneous albinism type 4 medical term. What does oculocutaneous albinism type 4 mean?
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 ...
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, ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Oculocutaneous albinism type 2
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
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 ...
Click here for Oculocutaneous albinism pictures! You can also find pictures of Necklace of Venus, Ocular rosacea, Ocular albinism.
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 ...
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. ...
Defects in TYR are the cause of oculocutaneous albinism type IA (OCA-IA) [MIM:203100]. OCA-I, also known as tyrosinase negative oculocutaneous albinism, is an autosomal recessive disorder characterized by absence of pigment in hair, skin and eyes. OCA-I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB characterized by reduced activity of tyrosinase. OCA-IA patients presents with the life-long absence of melanin pigment after birth and manifest increased sensitivity to ultraviolet radiation and to predisposition to skin cancer [P14679 ...
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). ...
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 ...
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. ...
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 ...
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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).. ...
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Free, official coding info for 2018 ICD-10-CM E70.329 - includes detailed coding rules & notes, synonyms, ICD-9-CM conversion, index & annotation crosswalks, DRG grouping and more.
Free, official coding info for 2018 ICD-10-CM E70.32 - includes detailed coding rules & notes, synonyms, ICD-9-CM conversion, index & annotation crosswalks, DRG grouping and more.
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 ...
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 ...
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. ...
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. ...
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, ...
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. ...
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 ...
TYR - TYR (untagged)-Human tyrosinase (oculocutaneous albinism IA) (cDNA clone MGC:9191 IMAGE:3923096), complete cds available for purchase from OriGene - Your Gene Company.
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. ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
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 ...
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). ...
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 ...
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]. ...
Ocular and oculocutaneous albinism represent a spectrum of disorders with absent or significantly diminished amount of melanin either across different body tissues - skin, hair, eye (Oculocutaneous Albinism 1 and 2), or exclusively in eye tissues only (Ocular Albinism 1) .. The functionality and the clinical findings are diverse (the phenotype), and no direct correlation has been established to the underlying mutations (genotype).. The common ocular phenotype includes iris transillumination, foveal hypoplasia, nystagmus, reduced visual acuity, refractive error, photosensitivity and abnormal development of the visual pathways with characteristic abnormal routing of ganglion cell axons in the chiasma, resulting in abnormal visually evoked potentials. Current treatment options are limited to optical methods and low vision aids.. The mechanism of melanin pigment formation in the RPE cells and its role in the visual pathways and structures development is not completely understood, but a correlation ...
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 ...
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 ...
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 ...
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 research on albino people. 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.
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.
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 ...
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
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.
Definition of Hermansky-Pudlak syndrome with photos and pictures, translations, sample usage, and additional links for more information.
Albinism also results in white feathers but true albinos are thought to be rare in the wild. Albinism is caused by a genetic mutation causing an absence of tyrosinase in pigment cells. An albino individual is unable to produce melanin pigments. This leads to a good diagnostic feature with which to distinguish leucistic and albino individuals - the colour of the eye.. Albinos have pink eyes while the iris pigmentation of leucistic birds remains dark. Most albino birds die soon after fledging, primarily as a consequence of their poor eyesight, and albino birds are not thought to progress to adulthood in the wild. As with leucistic individuals, albinos can retain carotenoid pigments if normally present in the plumage. A common misnomer is partial albino - this is not possible since albinism affects the whole plumage of a bird, not just part.. If you have seen a bird with unusual plumage in your garden please complete our simple online questionnaire. ...
Tyrosinase antibody [N3C3] (tyrosinase (oculocutaneous albinism IA)) for WB. Anti-Tyrosinase pAb (GTX101094) is tested in Human samples. 100% Ab-Assurance.
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.
Manga, P et al. Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. SAMJ, S. Afr. med. j., Dec 2013, vol.103, no.12, p.984-988. ISSN 0256- ...
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.
Despite his focus solely on Tanzania, Broccos study illustrates the effect that family ties, globalization and religion can have on the lives of people with albinism worldwide. Albinism, like other illnesses, diseases and other congenital conditions, can make people more vulnerable and affect their social and economic status. But there is hope. Religious views which see the condition as simply Gods will coupled with the work of charities towards normalizing the condition and family/social support can help people with albinism develop their own sense of identity, overcome the stigma and lead normal lives.. NOTE TO JOURNALISTS. When referencing the article: Please include Journal title, Author, published by Taylor & Francis and the following statement:. * Read the full article online: http://tandfonline.com/doi ...
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 ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, with symptoms such as albinism, prolonged bleeding and cell storage problems.
Warfarin is a frequently prescribed drug for both the treatment and prevention of thromboembolic complications. Although many reports have been published over t...
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.
Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.
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 ...
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 ...
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. ...
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...
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,
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.
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.
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:. ...
Albinism Trust has a number of organisations which we confidently recommend. Listed below are a selection of useful resources. ...
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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(...)
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 ...
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 ...
Dr. Pollard responded: Yes. There are two principle types, the first which affects only the eyes, and the other which affects the eyes, hair and skin.
Science has a simple faith, which transcends utility. It is the faith that it is the privilege of man to learn to understand, and that this is his mission ...
Créez votre blog de futurs parents, informez la famille, faîtes-les réagir, et faîtes profiter tous vos amis de ces moments de bonheur !
3e56 is a 1 chain structure with sequence from Nosp7. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance ...
3juv is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance ...
Formula: C6H8ClN7OMW: 229. 63Salt: HCl; H2OCAS: 2016-88-8MDL NUMBER: MFCD00077316IUPAC: (3,5-diamino-6-chloropyrazin-2-yl)-N-(?...
There are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2)). An intron in HERC2 contains the promoter region for OCA2, affecting its expression. Therefore, singlenucleotide polymorphisms SNP in either of these two genes have a large role in the eye color of an individual. Furthermore, with all genetic expression, aberration also occurs. Some individuals may express two phenotypes-one in each eye-or a complete lack of pigmentation, ocular albinism. We could say that a conserved regulatory element within intron 86 of the HERC2 gene that is perfectly associated with the brown/blue eye color, in studied individuals from Denmark, Turkey and Jordan. This element had an inhibitory eVect on the OCA2 promoter activity in cell cultures, and the blue and the brown alleles were shown to bind non-identical subsets of ...
There are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2)). An intron in HERC2 contains the promoter region for OCA2, affecting its expression. Therefore, singlenucleotide polymorphisms SNP in either of these two genes have a large role in the eye color of an individual. Furthermore, with all genetic expression, aberration also occurs. Some individuals may express two phenotypes-one in each eye-or a complete lack of pigmentation, ocular albinism. We could say that a conserved regulatory element within intron 86 of the HERC2 gene that is perfectly associated with the brown/blue eye color, in studied individuals from Denmark, Turkey and Jordan. This element had an inhibitory eVect on the OCA2 promoter activity in cell cultures, and the blue and the brown alleles were shown to bind non-identical subsets of ...
If your child lacks pigment in his or her hair or skin at birth that affects the eyelashes and eyebrows - as is often the case in infants with albinism - your doctor will likely order an eye exam and closely follow any changes in your childs pigmentation.. For some infants, the first sign of albinism is poor visual tracking. This may be followed at 3 to 4 months of age by rapid back-and-forth shifting (nystagmus) in the eyes. If you observe these signs in your baby, talk to your doctor.. Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak or Chediak-Higashi syndromes, which are rare but serious genetic disorders.. Albinism is caused by a mutation in one of several genes. Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your ...
Sometimes the color of a persons eyes are not normal. Here are some interesting causes of this phenomenon.. Heterochromia, for example, is a condition in which the two eyes are different colors, or part of one eye is a different color. This can be caused by genetic inconsistencies, issues that occur during the development of the eye, or acquired later in life due to an injury or disease. Ocular albinism is a condition in which the eye is a very light color due to low levels of pigmentation in the iris, which is the result of a genetic mutation. It is usually accompanied by serious vision problems. Oculocutaneous albinism is a similar mutation in the bodys ability to produce and store melanin that affects skin and hair color in addition to the eyes.. Eye color can also be affected by certain medications. For example, a certain glaucoma eye drop is known to darken light irises to brown, as well as lengthen and darken eyelashes.. ...
Sometimes the color of a persons eyes are not normal. Here are some interesting causes of this phenomenon.. Heterochromia, for example, is a condition in which the two eyes are different colors, or part of one eye is a different color. This can be caused by genetic inconsistencies, issues that occur during the development of the eye, or acquired later in life due to an injury or disease. Ocular albinism is a condition in which the eye is a very light color due to low levels of pigmentation in the iris, which is the result of a genetic mutation. It is usually accompanied by serious vision problems. Oculocutaneous albinism is a similar mutation in the bodys ability to produce and store melanin that affects skin and hair color in addition to the eyes.. Eye color can also be affected by certain medications. For example, a certain glaucoma eye drop is known to darken light irises to brown, as well as lengthen and darken eyelashes.. ...
Sometimes the color of a persons eyes are not normal. Here are some interesting causes of this phenomenon.. Heterochromia, for example, is a condition in which the two eyes are different colors, or part of one eye is a different color. This can be caused by genetic inconsistencies, issues that occur during the development of the eye, or acquired later in life due to an injury or disease. Ocular albinism is a condition in which the eye is a very light color due to low levels of pigmentation in the iris, which is the result of a genetic mutation. It is usually accompanied by serious vision problems. Oculocutaneous albinism is a similar mutation in the bodys ability to produce and store melanin that affects skin and hair color in addition to the eyes.. Eye color can also be affected by certain medications. For example, a certain glaucoma eye drop is known to darken light irises to brown, as well as lengthen and darken eyelashes.. ...
Sometimes the color of a persons eyes are not normal. Here are some interesting causes of this phenomenon.. Heterochromia, for example, is a condition in which the two eyes are different colors, or part of one eye is a different color. This can be caused by genetic inconsistencies, issues that occur during the development of the eye, or acquired later in life due to an injury or disease. Ocular albinism is a condition in which the eye is a very light color due to low levels of pigmentation in the iris, which is the result of a genetic mutation. It is usually accompanied by serious vision problems. Oculocutaneous albinism is a similar mutation in the bodys ability to produce and store melanin that affects skin and hair color in addition to the eyes.. Eye color can also be affected by certain medications. For example, a certain glaucoma eye drop is known to darken light irises to brown, as well as lengthen and darken eyelashes.. ...
Congenital nystagmus onset is typically between 6 weeks and several months of age. If it starts after 6 months of age, this is considered acquired and may require imaging studies. Infantile nystagmus tends to be divided into two groups, depending on the underlying problem. One group arises from an abnormal afferent (or sensory) system, and the other from an abnormal efferent (motor) system. The efferent type is more common, but sometimes patients have early nystagmus due to afferent, or vision system, problems. In patients with early nystagmus secondary to afferent problems, conditions that limit their vision are thought to be responsible for the development of their nystagmus. The brain needs feedback from the eyes, through vision, to learn to keep them steady. Conditions that can be associated with this type of nystagmus include congenital cataracts, optic nerve hypoplasia, Lebers congenital amaurosis, achromatopsia, oculocutaneous albinism, aniridia, choroidal coloboma, severe refractive ...
CASE REPORT: We report the case of a 5 month-old male diagnosed with congenital nystagmus and oculocutaneous albinism. The initial examination showed pendular horizontal nystagmus with high amplitude and without blocking position or foveal fixation p
Our primary focus over the past 18 years has been on melanosomes of pigmented cells. Melanosomes are unique lysosome-related organelles present only in cells that make melanin, the major synthesized pigment in mammals. Genetic defects in melanosome constituents or in their delivery to nascent melanosomes result in ocular or oculocutaneous albinism, characterized by lack of pigmentation in the eyes and or skin and concomitant visual impairment and susceptibility to skin and ocular cancers. Melanosomes are among a number of tissue-specific lysosome-related organelles that are malformed and dysfunctional in a group of rare heritable disorders, including Hermansky-Pudlak and Chediak-Higashi syndromes, and pigment cell-specific proteins that localize to melanosomes are targets for the immune system in patients with melanoma. In an effort to understand the molecular basis of these diseases, we are dissecting the molecular mechanisms that regulate how different stage melanosomes are formed and ...
Victor Mecoamere Victor MecoamereEntries are being invited for the 2008 National Schools Essay Competition on Albinism, which seeks to squash myths and superstitions about the condition.Albinism is a common yet grossly misunderstood group of inherited yet manageable conditions. People with albinism have little or no pigment or melanin in the eyes, skin and hair.
Abstract: The effects of c and rd on jump-out and one-way avoidance learning were examined using both inbred strains and test crosses. Neither gene was found to retard either escape or avoidance performance in the jump-out task, although rd led to less accurate jumping. One-way performance, which required running through a small hole in a wall, was greatly disrupted in mice homozygous for rd; both escape latencies and learning rate were slower than those of mice with normal retinas. Two inbred strains with albinism did poorly on the one-way task, but no deleterious effects of c on one-way performance were detected in several test crosses. The absence of an albinism effect was not surprising, since all training was given under dim red light.. Contributions of the Genes Albinism (,i,c,/i,) and Retinal Degeneration (,i,rd,/i,) to a Strain-by-Training Procedure Interaction in Avoidance Learning ...
Albinism or hypopigmentation is a genetic disorder characterized by the complete or partial absence of pigment called melanin in the skin, hair and eyes. There is no known way to prevent albinism or hypopigmentation.
Lisa Gruson, MD; Thomas Berk, BA New York University School of Medicine Abstract Hermansky-Pudlak syndrome is an autosomal recessive disorder of lysosomal storage characterized by the triad of occulocutaneous albinism, bleeding diathesis, and pulmonary fibrosis. Sarcoidosis is a disease characterized by the development of noncaseating granulomas, most commonly affecting the lungs. The pathophysiology, histological findings, […]. Continue Reading. ...
... is a rare genetic disorder that causes to have no pigment and their skin ,eyes or hair. The symptoms of Albinism deal with eye, skin and hair color. 1 in 17,000 people get the genetic order. This genetic disorder is mostly common in these ethnic groups Native Americans,African Americans, Asians and Africans. This an pie chart with albinos in their population. Two famous celebrities are Shaun Ross and Salif keita. Shaun Ross was pretty much outcast from groups when he was a kid because he look different than others. Later as he started grow up he did signing as teen then a got a modeling job for famous designers now has became very popular shows albinos can do anything and not be judged. It was also the same for Salif Keita. In Africa Salif wanted to be a musician but he was outcasted from his own tribe. Now Salif is called the golden voice of Africa with his amazing singing talent. These two celebrities show that albinos can do anything they dream of.. ...
Joint manifestations are the common clinical thread that connects the rheumatic diseases. Extraarticular manifestations are also common, however, and are of vital importance to disease definition, differential diagnosis, and a furthering of insight into disease mechanisms and pathogenesis. Ocular and mucocutaneous lesions, which comprise some of the most important of these extraarticular manifestations, are presented in detail.. The introductory section is an interesting conceptual discussion of the overlapping nature of many of the connective-tissue diseases. Although some of the concepts are open to argument, the material serves as a stimulus to further studies aimed at answering some of the questions ...
Ocular albinism, type 1: lt;table class=infobox cellspacing=3 style=border-spacing:3px;width:22em;|>||Ocular Albinis... World Heritage Encyclopedia, the aggregation of the largest online encyclopedias available, and the most definitive collection ever assembled.
Read "A form of albinism in cattle is caused by a tyrosinase frameshift mutation, Mammalian Genome" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:2494997, PubMed:2517217, PubMed:1537333).
A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin.
Six weeks ago, a little boy was born with a rare condition, which affects only around 35,000 people in the United States, to a young couple living in Aloha Township in Cheboygan County. Khyran Dustin was born with a form of albinism, which causes sensitivity to light, vision impairments and lack of pigment in the skin. He is the son of Sonya and Tel Dustin.
to keep up on current issues that may be related to my children.. Both children are mainstreamed into a public charter school so I was recently reviewing the "Students with Albinism" section of the Web site. I came upon the question that perked my interest: Does My Student Need Braille? The response on the Web site reads, "Probably not. Most students with albinism have sufficient vision to use standard text, even if they need to use large print text or low vision aides. If your student with albinism is having difficulty reading print or tires of it easily, look into books on tape as an alternative.". I have to admit I was surprised at the belief and attitude NOAHs leadership has taken toward Braille. I feel that its one thing to take a position or give an opinion that most children with albinism will not need Braille (which I dont agree with), but the statement on your Web site could easily mislead parents about educational requirements.. The law clearly states that any visually impaired ...
Ms. Ikponwosa Ero (Nigeria) was designated in June 2015 as the first UN Independent Expert on the enjoyment of human rights by persons with albinism. The vision of Ms. Eros mandate is driven by the cross-cutting principle of the UN Sustainable development goals: "leaving no one behind…starting with the furthest behind first." Ms. Ero has over a decade of experience in the research, policy development, and practice of human rights concerning persons with albinism. She has advised organizations and governments around the world on human rights concerning persons with albinism. As the International Advocacy and Legal Officer for Under the Same Sun -- an international organization with a focus on albinism -- she developed strategic initiatives involving regional and international human rights mechanisms, prepared guiding documents, and oversaw the implementation of recommendations made by the UN and other human rights organizations. Ms Ero is also the author of numerous papers and articles, ...
Definition of Nettleshop-Falls albinism. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
TY - JOUR. T1 - Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). AU - Lam, Byron L. AU - Fingert, J. H.. AU - Shutt, B. C.. AU - Singleton, E. M.. AU - Merin, L. M.. AU - Brown, H. H.. AU - Sheffield, V. C.. AU - Stone, E. M.. PY - 1997/12/1. Y1 - 1997/12/1. N2 - Thirty-one members of a family affected with X-linked ocular albinism (OAI) were studied to characterize the clinical phenotype and identify the disease-causing mutation. The family members were examined with ophthalmoscopy, electroretinography, and Goldmann perimetry. Linkage analysis was performed with markers from the OAI locus. Exons 2 and 8 of the OAI gene were assayed with the polymerase chain reaction (PCR). The six affected males had visual acuities ranging from 20/40 to 20/200. All had nystagmus, iris transillumination, and foveal hypoplasia. The eldest affected male had 20/40 vision and was asymptomatic. The level of the visual acuity of the affected males was not related to the ...
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive mutation in the LYST gene. This results in microtubule defects in the cell that causes decreased phagocytosis. The decreased phagocytic activity of the cells in the body leads to recurrent pyogenic infections, skin pigmentation disorders and peripheral neuropathy. Manifestations include neutropenia, oculocutaneous albinism, periodontal disease, and bleeding disorders.. The bleeding disorders are heterogeneous. A study of 8 CHS patients by Al-Sheyyab, et.al. pointed out several mechanisms for the bleeding diathesis in CHS. In one patient, there is abnormal aggregation due to storage pool deficiency (SPD) of ADP and serotonin. In another patient, the aggregation defect resembles that of von Willebrand disease type IIb. Other defects involved the dense bodies and the alpha-granules as well as the platelet membrane.. An avenue of research in the pathophysiology of CHS is therefore opened up by these findings. What are the different ...
It is not hard to spot an albino snake, but is it hard to care for one?. I was in my local pet store with my sister one day when I noticed an albino python named Butterscotch. Butterscotch is not actually for sale, but is on display for others to look out. This made me wonder why I have always seen albino snakes in the zoo or at the aquarium, yet I have never heard of a person owning an albino reptile. Are they more difficult to care for? Do they have very sensitive diets? I did some research, and here is what I found out.. For starters, an albino reptile is a reptile that is born with a genetic abnormality known as albinism. Albinism is when there is a lack of pigment, or coloring, in the body and eyes of the animal. The most common snake breeds to have albinism are corn snakes and Burmese pythons. Typically, albinism results in an animal that is all white in color, but it can have other colors such as off-white and yellow. The eyes can turn red in color, and some albino snakes have poor ...
D14 Genomic Structure of the Mouse Ap3b1 Gene. Brian W. Rigatti1, Lijun Feng2, Edward, K. Novak3, Richard T. Swank2 and Michael B. Gorin3. Department of Ophthalmology, University of Pittsburgh, Pittsburgh, PA 15213; 2Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263; 3Departments of Human Genetics and Ophthalmology, University of Pittsburgh, Pittsburgh, PA 15213 The pearl (pe) mouse is a hypopigmentation mutant and a model for human Hermansky-Pudlak Syndrome (HPS). It has been determined that the pearl phenotype arises from mutation in the Ap3b1 gene, which encodes the b3A subunit of the AP-3 adaptor complex, which in turn regulates vesicular trafficking. It has been demonstrated that depletion of the b3A subunit in the pearl mouse results in the depletion of the whole AP-3 adaptor complex which in turn leads to abnormalities of biogenesis/function of subcellular organelles like lysosomes, melanosomes and platelet dense granules. ...
PURPOSE The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) genes was performed by direct sequencing of PCR-amplified exons in the proband. The detected GPR143 mutation was tested in all available family members and 200 normal controls by direct sequencing. RESULTS Congenital nystagmus, obvious fundus hypopigmentation, and foveal hypoplasia were observed in the proband but not in the carriers or the unaffected members. A novel splicing mutation c.658+1 g|t not found in 200 unrelated controls was identified and co-segregated with X-linked ocular albinism (XLOA) in this
Retinal detachment in albinism Ahmad M Mansour,1,2 Jay Chhablani,3 J Fernando Arevalo,4,5 Lihteh Wu,6 Ravi Sharma,3 Suthasinee Sinawat,7 Tharikarn Sujirakul,8 Alexandre Assi,9 Wandsy M Vélez-Vázquez,10 Mohamad A Mansour,1 Ozcan Kayikcioglu,11 Cem Kucukerdonmez,12 Ali Kal13 1Department of Ophthalmology, American University of Beirut, Beirut, Lebanon; 2Department of Ophthalmology, Rafic Hariri University Hospital, Beirut, Lebanon; 3L.V. Prasad Eye Institute, Banjara Hills, Hyderabad, India; 4Department of Ophthalmology, Johns Hopkins Bayview Medical Center, Baltimore, MD, USA; 5Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA; 6Asociados de Macula Vitreo y Retina de Costa Rica, San José, Costa Rica; 7Department of Ophthalmology, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand; 8Department of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 9Beirut Eye and Ear Specialty Hospital, Beirut, Lebanon; 10Retina
Institutions: The University of Tennessee, Graduate School of Genome Science & Technology, Oak Ridge National Laboratory. Sequence analysis of BACs selected as part of our effort to coordinate transcript and mutation maps of a 4-6 cM region surrounding the pink-eyed dilution (p) deletion complex of mouse chromosome 7 has identified two genes, Protein arginine methyltransferase 3 (Prmt3) and Tat-interacting protein, 30 kDa (Tip30). Tip30 is a transcription factor involved in metastasis and HIV-1 infection. The functional role of Prmt3 is under investigation. These genes are located approximately 5 kb apart on a single 150 kb BAC that maps completely within an interval delimited by the proximal breakpoints of two deletions. We describe the genomic structure of these two genes and their expression profiles in the mouse, and we present the fine-structure mapping data that places them within the p-deletion interval that also contains two ENU-induced alleles of a gene responsible for a lethal epilepsy ...

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

Oculocutaneous albinism type 2 explanation free. What is Oculocutaneous albinism type 2? Meaning of Oculocutaneous albinism ... Looking for online definition of Oculocutaneous albinism type 2 in the Medical Dictionary? ... Related to Oculocutaneous albinism type 2: ocular albinism type 2, Oculocutaneous albinism type 3, oculocutaneous albinism type ... Oculocutaneous albinism type II, Yellow albinism. Albinism, major groups. Generalized (oculocutaneous) albinism. All 6 subtypes ...
more infohttps://medical-dictionary.thefreedictionary.com/Oculocutaneous+albinism+type+2

Oculocutaneous albinism - Biology-Online DictionaryOculocutaneous albinism - Biology-Online Dictionary

There are two types of albinism in humans, i.e. the oculocutaneous albinism and the ocular albinism. In oculocutaneous albinism ... 2 Oculocutaneous albinism. (2007). Retrieved from http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism ... Oculocutaneous albinism is associated with mutations in genes involved in melanin production within the melanocytes.2 Examples ... Both the oculocutaneous and cutaneous albinisms are typically associated with vision problems such as nystagmus, photophobia, ...
more infohttps://www.biology-online.org/dictionary/Oculocutaneous_albinism

Oculocutaneous albinism - WikipediaOculocutaneous albinism - Wikipedia

Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some ... "Oculocutaneous albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism http://www.orpha. ... Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ... Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several ...
more infohttps://en.wikipedia.org/wiki/Oculocutaneous_albinism

Oculocutaneous Albinism
      - Albinism, Yellow Mutant
     Summary Report | CureHunterOculocutaneous Albinism - Albinism, Yellow Mutant Summary Report | CureHunter

Oculocutaneous Albinism: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ... Albinism, Yellow Mutant; Albinism, Oculocutaneous; Yellow Mutant Albinism; Albinism, Tyrosinase Negative; Albinism, Tyrosinase ... Oculocutaneous Albinism (Albinism, Yellow Mutant). Subscribe to New Research on Oculocutaneous Albinism ... Mutant Albinisms, Yellow; Tyrosinase-Negative Albinism; Tyrosinase-Positive Albinism; Yellow-Mutant Albinism; Albinism, ...
more infohttp://www.curehunter.com/public/keywordSummaryD016115.do

Tyrosinase gene mutations associated with type IB (yellow) oculocutaneous albinism. | Sigma-AldrichTyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. | Sigma-Aldrich

Tyrosinase gene mutations associated with type IB (yellow) oculocutaneous albinism.. [L B Giebel, R K Tripathi, K M Strunk, J ... oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In ...
more infohttps://www.sigmaaldrich.com/catalog/papers/1903591

Oculocutaneous albinism type I - WikipediaOculocutaneous albinism type I - Wikipedia

Oculocutaneous Albinism Type I or -Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type ... of albinism is caused when the gene OCA1 does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", ...
more infohttps://en.wikipedia.org/wiki/Oculocutaneous_albinism_type_I

Brown Oculocutaneous Albinism | definition of Brown Oculocutaneous Albinism by Medical dictionaryBrown Oculocutaneous Albinism | definition of Brown Oculocutaneous Albinism by Medical dictionary

Brown Oculocutaneous Albinism explanation free. What is Brown Oculocutaneous Albinism? Meaning of Brown Oculocutaneous Albinism ... Looking for online definition of Brown Oculocutaneous Albinism in the Medical Dictionary? ... Brown Oculocutaneous Albinism , definition of Brown Oculocutaneous Albinism by Medical dictionary https://medical-dictionary. ... a href=https://medical-dictionary.thefreedictionary.com/Brown+Oculocutaneous+Albinism,Brown Oculocutaneous Albinism,/a,. * ...
more infohttp://medical-dictionary.thefreedictionary.com/Brown+Oculocutaneous+Albinism

JCI -
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismJCI - Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

Albinism . New York, New York, USA: McGraw-Hill; 2001. * King RA, Oetting WS. Oculocutaneous albinism. In: Nordlund JJ, Boissy ... in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum ... Visual disabilities of oculocutaneous albinism and their alleviation. Trans Ophthalmol Soc U K. 1978;98(4):423-445.. View this ... The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. 1992;51(4):879-884.. View ...
more infohttps://www.jci.org/articles/view/59372

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

Baxter, L. L., and W. J. Pavan, 2002 The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ... Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. Shoji Fukamachi, Masato ...
more infohttp://www.genetics.org/content/178/2/761

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 ... in melanocytes from an individual with Brown oculocutaneous albinism: a new type of albinism classified as "OCA3". American ... Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and ... 2005). Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clinical Genetics, 68, 182-184.PubMed ...
more infohttps://link.springer.com/article/10.1007%2Fs12013-011-9234-0

ZFIN  Human Disease: oculocutaneous albinism type IVZFIN Human Disease: oculocutaneous albinism type IV

An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2. https:// ...
more infohttp://zfin.org/action/ontology/term-detail/DOID:0070098

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

Purpose To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there ... Refractive profile in oculocutaneous albinism and its correlation with final visual outcome ... Refractive profile in oculocutaneous albinism and its correlation with final visual outcome ... Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help ...
more infohttp://bjo.bmj.com/content/96/4/537.full

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. | Sigma-AldrichOculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. | Sigma-Aldrich

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.. [Kai-hui Zhang, ... Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and ...
more infohttps://www.sigmaaldrich.com/catalog/papers/21739261

A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 | IOVS | ARVO JournalsA Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 | IOVS | ARVO Journals

Tyr mutations are involved in the genetic disease oculocutaneous albinism type 1 (OCA1), which is described by the complete ( ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1 ... A Computational Analysis of Human Tyrosinase to Further Understanding of Oculocutaneous Albinism Type 1. Invest. Ophthalmol. ...
more infohttps://iovs.arvojournals.org/article.aspx?articleid=2559469

Oculocutaneous albinism | Orphanet Journal of Rare Diseases | Full TextOculocutaneous albinism | Orphanet Journal of Rare Diseases | Full Text

The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, ... Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and ... Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ...
more infohttps://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-43

Oculocutaneous Albinism (OA)Oculocutaneous Albinism (OA)

... : Z-Factor in Doberman Pinschers. Description:. In Doberman pinschers, a 4,081 base pair deletion ... Dog is a carrier for the Oculocutaneous Albinism mutation, and can pass on a copy of the defective gene to its offspring 50% of ... The dog carries two copies of the mutant gene and is homozygous for the Oculocutaneous Albinism. The dog is affected, and will ... Dog tested negative for the Oculocutaneous Albinism gene mutation, and will not pass on the defective gene to its offspring.. ...
more infohttps://www.animalgenetics.us/Canine/Genetic_Disease/OA.asp

Albinism, Oculocutaneous, Type Vi disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsAlbinism, Oculocutaneous, Type Vi disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous ... Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous ... is related to oculocutaneous albinism and albinism. An important gene associated with Albinism, Oculocutaneous, Type Vi is ... MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vi:. Name: Albinism, Oculocutaneous, Type Vi 57 29 6 73 ...
more infohttps://www.malacards.org/card/albinism_oculocutaneous_type_vi

Oculocutaneous Albinism Treatment, Oculocutaneous Albinism Diagnosis In Hyderabad - View Doctors, Book Appointment Online |...Oculocutaneous Albinism Treatment, Oculocutaneous Albinism Diagnosis In Hyderabad - View Doctors, Book Appointment Online |...

Book Appointment Online, View Fees, Reviews Doctors for Oculocutaneous Albinism Treatment in Hyderabad , Practo ... Treatment for oculocutaneous albinism in Hyderabad, find doctors near you. ...
more infohttps://www.practo.com/hyderabad/treatment-for-oculocutaneous-albinism

Oculocutaneous Albinism German Spitz Type (OCA2) - AnimaLabs©Oculocutaneous Albinism German Spitz Type (OCA2) - AnimaLabs©

... is a form of albinism, disorder of melanin production, affecting this dog breed. ... Oculocutaneous Albinism German Spitz Type (OCA2). Oculocutaneous Albinism German Spitz Type (OCA2) is a form of albinism, ... Oculocutaneous Albinism German Spitz type is caused by a guanine to adenine substitution in the conserved 5-splice site of the ... Caduff M, Bauer A, Jagannathan V, Leeb T (2017) OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. ...
more infohttp://www.animalabs.com/shop/dogs/inherited-diseases-dogs/oculocutaneous-albinism-german-spitz-type-oca2/

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. ... Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. ... Oculocutaneous albinism Type 1 mutations indicate changes in the recombinant tyrosinase folding and activity. ... Monika B Dolinska, Paul T Wingfield, Sara Farney, Brian Patrick Brooks, Yuri V Sergeev; Oculocutaneous albinism Type 1 ...
more infohttp://iovs.arvojournals.org/article.aspx?articleid=2334633

Albinism, Oculocutaneous, Type Ia disease: Malacards - Research Articles, Drugs, Genes, Clinical TrialsAlbinism, Oculocutaneous, Type Ia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous ... Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous ... also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ib and albinism, oculocutaneous, ... albinism, oculocutaneous, type ib 32.1. LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1 2. albinism, oculocutaneous, type ii 31.0. OCA2 ...
more infohttps://www.malacards.org/card/albinism_oculocutaneous_type_ia

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome | Asper BiogeneOculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome | Asper Biogene

Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome testing with next generation sequencing of a multigene ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Genes. (full. coding ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ... oculocutaneous albinism) or only the eyes (ocular albinism). ... Oculocutaneous albinism (OCA) is divided into seven types, ...
more infohttps://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-NGS-panel

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS...List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS...

Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel ... Albinism, oculocutaneous, type IV. TYR. Albinism, oculocutaneous, type IA;. Albinism, oculocutaneous, type IB;. Waardenburg ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Gene. Condition. ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ...
more infohttps://www.asperbio.com/asper-dermatology/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome/list-of-diseases-covered-by-oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-ngs-panel/

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 ... Conclusions: This study expands the mutation spectrum of oculocutaneous albinism. It is the first report that c.549_510delGT ... Yun Wang; Mutational analysis of TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. Invest. Ophthalmol. ... Results: Four patients, diagnosed as oculocutaneous albinism, presented with milky skin, white or light brown hair and ...
more infohttp://iovs.arvojournals.org/article.aspx?articleid=2332697

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...

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency (Journal article ... Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. en. ...
more infohttp://olympias.lib.uoi.gr/jspui/handle/123456789/18742?mode=full
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