Oculocutaneous Albinism Type 7

Description

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

Clinical Features

Phenotypes and symptoms related to Oculocutaneous Albinism Type 7

  • Nystagmus
  • Photophobia
  • 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

Oculocutaneous Albinism Type 7 Is also known as oca7.

Researches and researchers

Doctors, researchs, and experts related to Oculocutaneous Albinism Type 7 extracted from public data.

Oculocutaneous Albinism Type 7 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 7 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 %
OCA7 C10orf11.

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

LRMDA
Specificity
100 %
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 VII (sequence analysis of C10orf11 gene).

By CGC Genetics (Portugal).

LRMDA
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 %

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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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