KEGG   DISEASE: Ichthyosis prematurity syndrome
Entry
H00741                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00741  Ichthyosis prematurity syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00741  Ichthyosis prematurity syndrome
Gene
SLC27A4 [HSA:10999] [KO:K08745]
Other DBs
ICD-11: LD27.2
MeSH: C536271
OMIM: 608649
Reference
  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
Reference
  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
Reference
  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
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