hyperferritinemia-cataract syndrome (DOID:0111256)
Alliance: disease page
Synonyms: Bonneau-Beaumont syndrome; cataract-hyperferritinemia syndrome; hereditary hyperferritinemia with congenital cataracts; hereditary hyperferritinemia-cataract syndrome; HHCS; HRFTC; hyperferritinemia with or without cataract
Alt IDs: OMIM:600886, MESH:C538137, ORDO:163, UMLS_CUI:C1833213
Definition: A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.