Orphanet: Oculocutaneous albinism type 1

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Oculocutaneous albinism type 1

Disease definition

A group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


Classification level: Disorder
  • Synonym(s):
    • OCA1
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 203100  606952
  • UMLS: C0268494
  • MeSH: -
  • GARD: 4037
  • MedDRA: -

Detailed information

Article for general public


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