KEGG   DISEASE: Townes-Brocks syndrome
Entry
H00573                      Disease                                

Name
Townes-Brocks syndrome
Description
Townes-Brocks syndrome is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00573  Townes-Brocks syndrome
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
    H00573  Townes-Brocks syndrome
Gene
SALL1 [HSA:6299] [KO:K19871]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C536974
OMIM: 107480
Reference
  Authors
Powell CM, Michaelis RC
  Title
Townes-Brocks syndrome.
  Journal
J Med Genet 36:89-93 (1999)
DOI:10.1136/jmg.36.2.89
Reference
  Authors
Kohlhase J
  Title
SALL1 mutations in Townes-Brocks syndrome and related disorders.
  Journal
Reference
  Authors
Keegan CE, Mulliken JB, Wu BL, Korf BR
  Title
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
  Journal
Genet Med 3:310-3 (2001)
DOI:10.1097/00125817-200107000-00007
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