Hyperferritinemia with or without cataract - CISMeF
Hyperferritinemia with or without cataractOMIM Phenotype
Preferred Label : Hyperferritinemia with or without cataract;
Symbol : HRFTC;
CISMeF acronym : HHCS; HRFTC;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : HHCS; Hyperferritinemia, hereditary, with congenital cataracts; Hyperferritinemia-cataract syndrome;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ferritin light chain gene (FTL, 134790.0001);
Laboratory abnormalities : Elevated ferritin L subunit; Elevated serum ferritin; Normal red cell counts; Serum ferritin hyperglycosylation; Normal serum iron; Normal transferrin saturation;