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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

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 600886

References

  1. UniProt :accession P02792
  2. OMIM :accession 600886