" /> Hyperferritinemia with or without cataract - CISMeF





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;

Prefixed ID : #600886;

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25/05/2025


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