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Hyperferritinemia, hereditary, with congenital cataracts MeSH Supplementary Concept Data 2025


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
Registry Numbers
0
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 Preferred
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