Albinism, Oculocutaneous, Type Iii; Oca3

Clinical Features

Phenotypes and symptoms related to Albinism, Oculocutaneous, Type Iii; Oca3

  • Nystagmus
  • Strabismus
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Albinism
  • Freckling
  • Iris hypopigmentation
  • Red hair
  • Partial albinism

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Albinism, Oculocutaneous, Type Iii; Oca3 Is also known as roca, oculocutaneous albinism, type iii, albinism iii, xanthism, rufous oculocutaneous albinism.

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 Iii; Oca3 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
50 %
TYRP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TYRP1
Specificity
100 %
Genes
50 %
TYRP1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

TYRP1
Specificity
100 %
Genes
50 %
TYRP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TYRP1
Specificity
100 %
Genes
50 %
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
50 %
Oculocutaneous Albinism Type 3 - TYRP1 Sequencing.

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

TYRP1
Specificity
100 %
Genes
50 %
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
50 %
Oculocutaneous albinism type 3.

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

TYRP1
Specificity
100 %
Genes
50 %

We have 38 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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