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Hereditary hyperferritinemia with congenital cataracts

Disease definition

Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

ORPHA:163

  • Synonym(s):
    • Bonneau-Beaumont syndrome
    • HHCS
    • Hereditary hyperferritinemia-cataract syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: H26.0
  • OMIM: 600886
  • UMLS: C1833213
  • MeSH: C538137
  • GARD: 2806
  • MedDRA: -

Additional information

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