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GENATLAS PHENOTYPE
last update : 10/06/2008
Symbol NCIE2
Location 3p21.33
Name non bullous congenital ichthyosiform erythroderma, 2
Other name(s) Chanarin-Dorfman syndrome
Corresponding gene ABHD5
Other symbol(s) CDS, IECN2
Main clinical features
  • non lysosomal inborn error of neutral lipid metabolism, neutral lipid storage disease, with an excessive accumulation of triacylglycerol in several tissues and ichthyosis
  • ichthyosis in an erythema background with fine white scaling, collodion babies at birth, developmental delay, liver steatosis with cirrhosis, hepatomegaly, lipid droplets in granulocytes and in most tissues, massive accumulation in muscle fibers
    • Genetic determination autosomal recessive
    Related entries forms with progressive muscular atrophy
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name CGI-58 protein (ABHD5)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation block lipolysis and cause accumulation of lipids droplet that may explain the permeability barrier abnormality
    Remark(s)