KEGG   DISEASE: 心臓弁形成異常
エントリ  
H02375                                                             
名称    
心臓弁形成異常
  下位グループ
心臓弁発生異常 (CVDD)
概要    
Cardiac valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported.
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
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA89  機能的単心室
      H02375  心臓弁形成異常
病因遺伝子 
(CVDP1) PLD1 [HSA:5337] [KO:K01115]
(CVDP2) ADAMTS19 [HSA:171019] [KO:K08633]
リンク   
ICD-11: LA89.Y
MeSH: C565882
OMIM: 212093 620067
文献    
PMID:27799408 (CVDP1)
  著者
Ta-Shma A, Zhang K, Salimova E, Zernecke A, Sieiro-Mosti D, Stegner D, Furtado M, Shaag A, Perles Z, Nieswandt B, Rein AJ, Rosenthal N, Neiman AM, Elpeleg O
  タイトル
Congenital valvular defects associated with deleterious mutations in the PLD1 gene.
  雑誌
J Med Genet 54:278-286 (2017)
DOI:10.1136/jmedgenet-2016-104259
文献    
PMID:32323311 (CVDP2)
  著者
Massadeh S, Alhashem A, van de Laar IMBH, Alhabshan F, Ordonez N, Alawbathani S, Khan S, Kabbani MS, Chaikhouni F, Sheereen A, Almohammed I, Alghamdi B, Frohn-Mulder I, Ahmad S, Beetz C, Bauer P, Wessels MW, Alaamery M, Bertoli-Avella AM
  タイトル
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
  雑誌
Clin Genet 98:56-63 (2020)
DOI:10.1111/cge.13760
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