Oculocutaneous Albinism Type 4

Description

Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

Clinical Features

Top most frequent phenotypes and symptoms related to Oculocutaneous Albinism Type 4

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia
  • Hypopigmentation of the skin
  • Thickened skin
  • Melanoma
  • Albinism
  • Basal cell carcinoma

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 OCULOCUTANEOUS ALBINISM TYPE 4 have a estimated prevalence of 1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Oculocutaneous Albinism Type 4 Is also known as oca4, oculocutaneous albinism, type iv.

Researches and researchers

Doctors, researchs, and experts related to Oculocutaneous Albinism Type 4 extracted from public data.

Oculocutaneous Albinism Type 4 Experts map



Current Researchs and researchers

  • MADRID — Dr Matías MORÍN RODRÍGUEZ

    Investigator of research project

    • Institution/s:
      — Hospital Universitario Ramón y Cajal
    • Research area/topic::

      Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition


  • 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 4 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 %
SLC45A2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
Specificity
100 %
Genes
100 %
SLC45A2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
Specificity
100 %
Genes
100 %
SLC45A2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC45A2
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 4 - SLC45A2 Sequencing.

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

SLC45A2
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 4.

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

SLC45A2
Specificity
100 %
Genes
100 %

We have 37 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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