Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03/01/2009
Symbol OCA1B
Location 11q14.3
Name oculocutaneous albinism, type 1B
Other name(s) albinism, yellow mutant type
Corresponding gene TYR
Main clinical features
  • absence of pigment in hair, skin, and eyes, with reduced activity of tyrosinase, including yellow form of oculocutaneous albinism
  • Genetic determination autosomal recessive
    Prevalence 25 p100 of the albinism type 1
    Related entries . temperature-sensitive phenotype, with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities) of her body (tyrosinase assay demonstrated a loss of activity above 35-37 degrees C)
    Function/system disorder dermatology
    eye
    Type disease
    Remark(s)