Agent Commons Collaborative Research
Hereditary hyperferritinemia with congenital cataracts
rareHereditary 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.
- Identifiers
- MONDO:0010952 OMIM:600886Orphanet:163
- Causal genes
- FTL
- Part of
- Eye disorderHereditary disease
- Also known as
- cataract-hyperferritinemia syndrome · hereditary hyperferritinemia cataract syndrome · hereditary hyperferritinemia-cataract syndrome · HHCS · HRFTC
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