Oculocutaneous Albinism Type 1b

Description

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.

Clinical Features

Top most frequent phenotypes and symptoms related to Oculocutaneous Albinism Type 1b

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Photophobia
  • Hypopigmentation of the skin
  • Thickened skin
  • Abnormality of retinal pigmentation
  • Melanoma
  • Melanocytic nevus
  • Albinism

And another 7 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 OCULOCUTANEOUS ALBINISM TYPE 1B have a estimated prevalence of 1.3 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Oculocutaneous Albinism Type 1b Is also known as platinum oculocutaneous albinism, oca1b, yellow oculocutaneous albinism, oculocutaneous albinism, amish type.

Researches and researchers

Doctors, researchs, and experts related to Oculocutaneous Albinism Type 1b extracted from public data.

Oculocutaneous Albinism Type 1b Experts map



Current Researchs and researchers

  • SEVILLA — Dr María del Carmen PEÑA CHILET

    Investigator of research project

    • Institution/s:
      — Fundación Progreso y Salud
    • Research area/topic::

      Mathematical models of disease mechanisms to reformulate drugs for rare diseases



Mendelian

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Oculocutaneous Albinism Type 1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %

We have 70 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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