KEGG   DISEASE: Cocoon syndrome
Entry
H00882                      Disease                                

Name
Cocoon syndrome
Description
Cocoon syndrome is an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. It has been reported that defects in CHUK are the cause of cocoon syndrome. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00882  Cocoon syndrome
Pathway
hsa04010  MAPK signaling pathway
hsa04062  Chemokine signaling pathway
hsa04210  Apoptosis
hsa04380  Osteoclast differentiation
hsa04620  Toll-like receptor signaling pathway
hsa04621  NOD-like receptor signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04623  Cytosolic DNA-sensing pathway
hsa04660  T cell receptor signaling pathway
hsa04662  B cell receptor signaling pathway
hsa04920  Adipocytokine signaling pathway
Gene
CHUK [HSA:1147] [KO:K04467]
Other DBs
OMIM: 613630
Reference
  Authors
Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M
  Title
Mutant CHUK and severe fetal encasement malformation.
  Journal
N Engl J Med 363:1631-7 (2010)
DOI:10.1056/NEJMoa0911698
LinkDB

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