Oculocutaneous Albinism Type 1a

Description

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

Clinical Features

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

  • Nystagmus
  • Visual impairment
  • Hyperkeratosis
  • Photophobia
  • Hypopigmentation of the skin
  • Thickened skin
  • Albinism
  • Basal cell carcinoma
  • Freckling
  • Hypopigmentation of hair

And another 6 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 1A 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 1a Is also known as tyrosinase-negative oculocutaneous albinism, oca1a.

Researches and researchers

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

Oculocutaneous Albinism Type 1a Experts map



Current Researchs and researchers

  • HOMBURG — Pr Barbara KÄSMANN-KELLNER

    Clinical expert - Investigator of research project - Director of laboratory

    • Institution/s:
      — Universitätsklinikum des Saarlandes
      — Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes
    • Research area/topic::

      Topographics of the visual cortex in albinism and in conductors of oculo-cutaneous albinism type OCA1A


  • 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


Oculocutaneous Albinism Type 1a 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 %

You can get up to 70 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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