KEGG   DISEASE: 心臓・泌尿生殖器症候群
エントリ  
H02488                                                             
名称    
心臓・泌尿生殖器症候群
概要    
Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.
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
   LD2Y  その他の明示された多発性の発達異常または症候群
    H02488  心臓・泌尿生殖器症候群
病因遺伝子 
MYRF [HSA:745] [KO:K24768]
リンク   
ICD-11: LD2Y
OMIM: 618280
文献    
PMID:29446546
  著者
Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ
  タイトル
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
  雑誌
Am J Med Genet A 176:969-972 (2018)
DOI:10.1002/ajmg.a.38620
文献    
PMID:30532227
  著者
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y
  タイトル
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
  雑誌
PLoS Genet 14:e1007822 (2018)
DOI:10.1371/journal.pgen.1007822
LinkDB    

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