KEGG   DISEASE: 口蓋心臓顔面症候群
エントリ  
H01004                                                             
名称    
口蓋心臓顔面症候群
  下位グループ
Shprintzen 症候群
  上位グループ
22q11.2 欠失症候群 [DS:H01525]
概要    
Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia.
カテゴリ  
染色体異常
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  遺伝子変異を除く染色体異常
   LD44  常染色体の欠失
    H01004  口蓋心臓顔面症候群
病因遺伝子 
TBX1 [HSA:6899] [KO:K10175]
DGCR2 [HSA:9993] [KO:K27941]
DGCR6 [HSA:8214]
DGCR8 [HSA:54487] [KO:K18419]
ESS2 [HSA:8220] [KO:K13118]
コメント  
Velocardiofacial syndrome is closely related to DiGeorge syndrome (H01524).
リンク   
ICD-11: LD44.N0
MeSH: D058165
OMIM: 192430
文献    
  著者
Murphy KC, Owen MJ
  タイトル
Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia.
  雑誌
Br J Psychiatry 179:397-402 (2001)
DOI:10.1192/bjp.179.5.397
文献    
  著者
Murphy KC
  タイトル
Schizophrenia and velo-cardio-facial syndrome.
  雑誌
Lancet 359:426-30 (2002)
DOI:10.1016/S0140-6736(02)07604-3
文献    
PMID:14585638 (TBX1)
  著者
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R
  タイトル
Role of TBX1 in human del22q11.2 syndrome.
  雑誌
Lancet 362:1366-73 (2003)
DOI:10.1016/S0140-6736(03)14632-6
文献    
PMID:31174463 (DGCR2, DGCR6, DGCR8, ESS2)
  著者
Motahari Z, Moody SA, Maynard TM, LaMantia AS
  タイトル
In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
  雑誌
J Neurodev Disord 11:7 (2019)
DOI:10.1186/s11689-019-9267-z
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