KEGG   DISEASE: Townes-Brocks 症候群
エントリ  
H00573                                                             
名称    
Townes-Brocks 症候群
概要    
Townes-Brocks syndrome (TBS) 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.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00573  Townes-Brocks 症候群
病因遺伝子 
(TBS1) SALL1 [HSA:6299] [KO:K19871]
(TBS2) DACT1 [HSA:51339] [KO:K22154]
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C536974
OMIM: 107480 617466
文献    
  著者
Powell CM, Michaelis RC
  タイトル
Townes-Brocks syndrome.
  雑誌
J Med Genet 36:89-93 (1999)
DOI:10.1136/jmg.36.2.89
文献    
PMID:11478532 (SALL1)
  著者
Keegan CE, Mulliken JB, Wu BL, Korf BR
  タイトル
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.
  雑誌
Genet Med 3:310-3 (2001)
DOI:10.1097/00125817-200107000-00007
文献    
PMID:28054444 (DACT1)
  著者
Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE
  タイトル
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
  雑誌
Hum Mutat 38:373-377 (2017)
DOI:10.1002/humu.23171
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