| H00882 | |
| H number | H00882 |
| 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 |
| Network | - |
| Gene | CHUK [HSA:1147] [KO:K04467] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | OMIM: 613630 |
| Reference | PMID:20961246 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 |