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Dorfman-Chanarin disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.
Mondo Term and Equivalent IDs
MONDO:0010155:  Dorfman-Chanarin disease
GARD:0003979: 
Orphanet:98907: 
SCTID:19604005: