Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis similar to that of non-bullous congenital ichthyosiform erythroderma. Other characteristics include hepatomegaly, sensorineural deafness, mental retardation, and cataracts. Mutations in the CGI-58 gene encoding a protein of the alpha/beta hydrolase domain subfamily are responsible for this disorder.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H00736 Dorfman-Chanarin syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06545 Cornified envelope formation
H00736 Dorfman-Chanarin syndrome
