| H00741 | |
| H number | H00741 |
| Name | Ichthyosis prematurity syndrome |
| Description | Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease harbor mutations in the gene encoding the fatty acid transport protein 4 (FATP4). |
| Category | Congenital malformation |
| Network | - |
| Gene | SLC27A4 [HSA:10999] [KO:K08745] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.2 MeSH: C536271 OMIM: 608649 |
| Reference | PMID:21856041 AUTHORS Khnykin D, Ronnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL TITLE Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. JOURNAL J Am Acad Dermatol 66:606-16 (2012) DOI:10.1016/j.jaad.2011.04.014 PMID:19119129 AUTHORS Bygum A, Westermark P, Brandrup F TITLE Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. JOURNAL J Am Acad Dermatol 59:S71-4 (2008) DOI:10.1016/j.jaad.2008.06.014 PMID:19631310 AUTHORS Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, Vahlquist A, Bouadjar B, Dahl N, Fischer J TITLE Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. JOURNAL Am J Hum Genet 85:248-53 (2009) DOI:10.1016/j.ajhg.2009.06.021 |