KEGG   DISEASE: Dorfman-Chanarin syndromeHelp
Entry
H00736                      Disease                                

Name
Dorfman-Chanarin syndrome;
Chanarin-Dorfman syndrome
Description
Chanarin-Dorfman syndrome, 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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00736  Dorfman-Chanarin syndrome
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
BRITE hierarchy
Pathway
hsa04923  Regulation of lipolysis in adipocytes
Gene
CGI58 [HSA:51099] [KO:K13699]
Other DBs
ICD-11: 5C52.2
ICD-10: E75.5
MeSH: C536560
OMIM: 275630
Reference
PMID:16935789 (description, gene, marker)
  Authors
Oji V, Traupe H
  Title
Ichthyoses: differential diagnosis and molecular genetics.
  Journal
Eur J Dermatol 16:349-59 (2006)
Reference
  Authors
Richard G
  Title
Molecular genetics of the ichthyoses.
  Journal
Am J Med Genet C Semin Med Genet 131C:32-44 (2004)
DOI:10.1002/ajmg.c.30032
Reference
PMID:19061969 (description, gene, marker)
  Authors
Yamaguchi T, Osumi T
  Title
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
  Journal
Biochim Biophys Acta 1791:519-23 (2009)
DOI:10.1016/j.bbalip.2008.10.012
Reference
  Authors
Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J
  Title
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
  Journal
Am J Hum Genet 69:1002-12 (2001)
DOI:10.1086/324121

» Japanese version

DBGET integrated database retrieval system