hereditary hyperferritinemia-cataract syndrome

Genetics

• autosomal dominant
• associated with defects in FTL gene (mutations in the iron responsive element (IRE) of the FTL gene)

Clinical manifestations

• early-onset bilateral cataract

Laboratory

• elevated level of serum ferritin

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/600886