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hereditary hyperferritinemia with congenital cataracts

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
Mondo Term and Equivalent IDs
MONDO:0010952:  hereditary hyperferritinemia with congenital cataracts
DOID:0111256: 
GARD:0002806: 
MESH:C538137: 
Orphanet:163: 
SCTID:702398007: 
UMLS:C1833213: