Oculocutaneous Albinism Type 6

Description

Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).

Clinical Features

Top most frequent phenotypes and symptoms related to Oculocutaneous Albinism Type 6

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Reduced visual acuity
  • Photophobia
  • Carcinoma
  • Hypopigmentation of the skin
  • Abnormal bleeding
  • Nevus
  • Thickened skin

And another 15 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 there are 1 published cases of OCULOCUTANEOUS ALBINISM TYPE 6 in Europe.
No data available about the known clinical features onset.

Alternative names

Oculocutaneous Albinism Type 6 Is also known as oca6.

Researches and researchers

Doctors, researchs, and experts related to Oculocutaneous Albinism Type 6 extracted from public data.

Oculocutaneous Albinism Type 6 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 6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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, 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 %
Albinism sequencing panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
Albinism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
Albinism oculocutaneous type VI (sequence analysis of SLC24A5 gene).

By CGC Genetics (Portugal).

SLC24A5
Specificity
100 %
Genes
100 %
Albinism (NGS panel for 12 genes).

By CGC Genetics (Portugal).

TYR, TYRP1, SLC45A2, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
9 %
Genes
100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TYR, TYRP1, SLC45A2, HPS6, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
8 %
Genes
100 %
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC24A5
Specificity
100 %
Genes
100 %

We have 17 more panels available in our App

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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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