Orphanet: Oculocutaneous albinism type 5
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Oculocutaneous albinism type 5

Disease definition

Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.

ORPHA:370091

Classification level: Disorder
  • Synonym(s):
    • OCA5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 615312
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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