MeSH Browser

MeSH Supplementary: Hyperferritinemia, hereditary, with congenital cataracts
Unique ID: C538137
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538137
Entry Term(s): Bonneau-Beaumont Syndrome; Dominant hyperferritinemia and cataract; Hereditary Hyperferritinemia with Congenital Cataracts; Hereditary hyperferritinemia-cataract syndrome; Hyperferritinemia cataract syndrome; Hyperferritinemia-Cataract Syndrome
Heading Mapped to: Cataract / congenital; Iron Metabolism Disorders / congenital
Frequency: 46
Note: A heriditary autosomal dominant disorder of iron metabolism characterized by the development of cataracts at a young age and up to age 40, elevated serum FERRITIN, but normal serum iron and ERYTHROCYTE COUNT. Mutations in the FTL gene have been identified. OMIM: 600886
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Hyperferritinemia, hereditary, with congenital cataracts MeSH Supplementary Concept Data 2024