OBO ID: DOID:0111256
Term Name: hyperferritinemia-cataract syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111256 )
OTHER hyperferritinemia-cataract syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FTL Hyperferritinemia-cataract syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None