KEGG   DISEASE: TARP 症候群
エントリ  
H00943                                                             
名称    
TARP 症候群
概要    
TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions.
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
    H00943  TARP 症候群
病因遺伝子 
RBM10 [HSA:8241] [KO:K13094]
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C536942
OMIM: 311900
文献    
  著者
Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG
  タイトル
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
  雑誌
Am J Hum Genet 86:743-8 (2010)
DOI:10.1016/j.ajhg.2010.04.007
文献    
  著者
Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG
  タイトル
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.
  雑誌
Am J Med Genet A 155A:2516-20 (2011)
DOI:10.1002/ajmg.a.34190
文献    
  著者
Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG
  タイトル
Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients.
  雑誌
Am J Med Genet A 120A:1-4 (2003)
DOI:10.1002/ajmg.a.10201
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