| H00496 | |
| H number | H00496 |
| Name | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) |
| Description | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition. |
| Category | Congenital malformation |
| Network | nt06034(H00496) Cholesterol biosynthesis |
| Gene | NSDHL [HSA:50814] [KO:K07748] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.04 ICD-10: Q87.8 MeSH: C562515 OMIM: 308050 |
| Reference | PMID:16088165 AUTHORS Kim CA, Konig A, Bertola DR, Albano LM, Gattas GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH TITLE CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene. JOURNAL Dermatology 211:155-8 (2005) DOI:10.1159/000086448 PMID:10710235 (NSDHL) AUTHORS Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH TITLE Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. JOURNAL Am J Med Genet 90:339-46 (2000) DOI:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5 |