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GENATLAS PHENOTYPE
last update : 03/01/2009
Symbol OCA1
Location 11q14.3
Name oculocutaneous albinism, type 1A
Other name(s) oculocutaneous albinism, tyrosinase-negative
Corresponding gene TYR
related resource AlbinismDatabase
Other symbol(s) ATN, OCA1A
Main clinical features
  • characterized by generalized hypopigmentation, nystagmus, photophobia, alternating strabismus, misrouting of optic nerves, and reduced visual acuity
  • also including some autosomal recessive ocular albinism, associated with a leucodystrophy in a child with a 11q14 deletion
    • Genetic determination autosomal recessive
    Prevalence 60% of OCA worldwide
    Function/system disorder eye
    dermatology
    Type disease
    Gene product
    Name tyrosinase (TYR)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    Remark(s)