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GENATLAS PHENOTYPE
last update : 06-09-2023
Symbol CAHF
Location 19q13.33
Name hyperferritinemia cataract syndrome
Other name(s) hyperferritinemia-cataract syndrome
Corresponding gene FTL
Other symbol(s) HHCS, HRFTC
Main clinical features
  • congenital nuclear cataract and elevated serum ferritin not related to iron overload
    • Genetic determination autosomal dominant
    Function/system disorder eye
    metabolism/metal
    Type disease
    Gene product
    Name iron-responsive element of the L ferritin (FTL)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/gain of function  
    Remark(s)