Albinism, Oculocutaneous, Type Ia; Oca1a

Description

Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus (King et al., 2001).Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B. Genetic Heterogeneity of Oculocutaneous AlbinismOCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B ), characterized by reduced activity of tyrosinase. OCA2 (OMIM ), OCA3 (OMIM ), and OCA4 (OMIM ) are somewhat milder forms of the disorder, caused by mutations in the OCA2 (OMIM ), TYRP1 (OMIM ), and MATP (SLC45A2 ) genes, respectively. OCA5 (OMIM ) has been mapped to chromosome 4q24. OCA6 (see {113750}) is caused by mutation in the SLC24A5 gene (OMIM ). OCA7 (OMIM ) is caused by mutation in the C10ORF11 gene (OMIM ).See also ocular albinism (OA1 ), which is restricted phenotypically to ocular involvement only.

Clinical Features

Top most frequent phenotypes and symptoms related to Albinism, Oculocutaneous, Type Ia; Oca1a

  • Nystagmus
  • Strabismus
  • Myopia
  • Visual loss
  • Reduced visual acuity
  • Photophobia
  • Astigmatism
  • Hypopigmentation of the skin
  • Exotropia
  • Albinism

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Albinism, Oculocutaneous, Type Ia; Oca1a have a estimated prevalence of 2.5 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Albinism, Oculocutaneous, Type Ia; Oca1a Is also known as oculocutaneous albinism, type i, atn, albinism i, oca1, oculocutaneous albinism, tyrosinase-negative.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Albinism, Oculocutaneous, Type Ia; Oca1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
TYR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TYR
Specificity
100 %
Genes
100 %
TYR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

TYR
Specificity
100 %
Genes
100 %
TYR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TYR
Specificity
100 %
Genes
100 %
Ocular Albinism and Hermansky Pudlak Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6
Specificity
6 %
Genes
100 %
Oculocutaneous Albinism, Type 1 - TYR Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TYR
Specificity
100 %
Genes
100 %
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

TYR, TYRP1, SLC45A2, SLC24A5, LRMDA, OCA2
Specificity
17 %
Genes
100 %
Oculocutaneous albinism type 1.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

TYR
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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