KEGG   DISEASE: 先天性巨大膀胱
エントリ  
H02495                                                             
名称    
先天性巨大膀胱
概要    
Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.
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
  主に1つの体系に影響する構造的発達異常
   尿路系の構造的発達異常
    LB31  尿路の構造的発達異常
     H02495  先天性巨大膀胱
病因遺伝子 
MYOCD [HSA:93649] [KO:K22526]
リンク   
ICD-11: LB31.7
MeSH: C536139
OMIM: 618719
文献    
PMID:31513549
  著者
Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE
  タイトル
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
  雑誌
J Clin Invest 129:5374-5380 (2019)
DOI:10.1172/JCI128545
文献    
PMID:25805819
  著者
Huang J, Wang T, Wright AC, Yang J, Zhou S, Li L, Yang J, Small A, Parmacek MS
  タイトル
Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.
  雑誌
Proc Natl Acad Sci U S A 112:4447-52 (2015)
DOI:10.1073/pnas.1420363112
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