Orphanet: Hereditary hyperferritinemia with congenital cataracts

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.


  • 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

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.