KEGG   DISEASE: Hand-foot-genital syndrome
Entry
H00460                      Disease                                
Name
Hand-foot-genital syndrome
Description
Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00460  Hand-foot-genital syndrome
Gene
HOXA13 [HSA:3209] [KO:K09298]
Other DBs
ICD-11: LD2F.1Y
MeSH: C535627
OMIM: 140000
Reference
PMID:21782042
  Authors
Brison N, Tylzanowski P, Debeer P
  Title
Limb skeletal malformations - what the HOX is going on?
  Journal
Eur J Med Genet 55:1-7 (2012)
DOI:10.1016/j.ejmg.2011.06.003
Reference
PMID:10839976
  Authors
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ
  Title
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
  Journal
Am J Hum Genet 67:197-202 (2000)
DOI:10.1086/302961
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