" /> Oculocutaneous albinism type 1A - CISMeF





Preferred Label : Oculocutaneous albinism type 1A;

ICD-11 definition : OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.;

ICD-11 synonym : OCA1A - [Oculocutaneous albinism type 1A]; Albino; Tyrosinase-negative oculocutaneous albinism;

ICD-11 acronym : OCA1A;

ICD-11 inclusion : Albino;

Détails


Vous pouvez consulter :

OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.

Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.