KEGG   DISEASE: H00882Help
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
Developmental disorder
BRITE hierarchy
Pathway
MAPK signaling pathway
Chemokine signaling pathway
Apoptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
T cell receptor signaling pathway
B cell receptor signaling pathway
Adipocytokine signaling pathway
Gene
CHUK [HSA:1147] [KO:K04467]
Other DBs
OMIM: 
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)

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