KEGG   DISEASE: Ichthyosis with hypotrichosisHelp
Entry
H00739                      Disease                                

Name
Ichthyosis with hypotrichosis
Description
Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked ST14 encoding the matriptase serine protease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00739  Ichthyosis with hypotrichosis
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
    H00739  Ichthyosis with hypotrichosis
BRITE hierarchy
Gene
ST14 [HSA:6768] [KO:K08670]
Other DBs
ICD-11: LD27.2
ICD-10: Q80.9
MeSH: C536273
OMIM: 602400
Reference
  Authors
Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L
  Title
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
  Journal
Clin Genet 74:47-53 (2008)
DOI:10.1111/j.1399-0004.2008.01006.x
Reference
  Authors
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M
  Title
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
  Journal
Am J Hum Genet 80:467-77 (2007)
DOI:10.1086/512487
Reference
  Authors
List K, Currie B, Scharschmidt TC, Szabo R, Shireman J, Molinolo A, Cravatt BF, Segre J, Bugge TH
  Title
Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice.
  Journal
J Biol Chem 282:36714-23 (2007)
DOI:10.1074/jbc.M705521200

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