oculocutaan albinisme type 1 (aandoening)
oculocutaan albinisme type 1
Oculocutaneous albinism type 1
A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 is variable. Pigmentation present in the skin, hair and eyes can range from little or none to pigmentation only to the peripheries. Findings of nystagmus, photophobia and reduced visual acuity are often present. The disease is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. Mutations in OCA1A and OCA1B lead to a total or partial loss of the catalytic activity of tyrosinase while those in OCA1-MP and OCA1-TS lead to minimal activity or temperature sensitive tyrosinase proteins. The different forms of OCA1 are all transmitted autosomal recessively.
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map352731
SNOMED CT to ICD-10 extended map
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified