hyperferritinemia-cataract syndrome

Term ID

DOID:0111256

Synonyms

• Bonneau-Beaumont syndrome
• cataract-hyperferritinemia syndrome
• hereditary hyperferritinemia with congenital cataracts
• hereditary hyperferritinemia-cataract syndrome
• HHCS
• HRFTC
• hyperferritinemia with or without cataract

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. (2)

References

• GARD:2806
• MESH:C538137
• MIM:600886
• ORDO:163
• SNOMEDCT_US_2023_03_01:702398007
• UMLS_CUI:C1833213

Ontology

Human Disease   ( DOID:0111256 )