KEGG   DISEASE: 心・肢先端・顔面異形成
エントリ  
H02506                                                             
名称    
心・肢先端・顔面異形成
概要    
Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an atrioventricular septal defect or a common atrium along with postaxial polydactyly.
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
    H02506  心・肢先端・顔面異形成
病因遺伝子 
(CAFD1) PRKACA [HSA:5566] [KO:K04345]
(CAFD2) PRKACB [HSA:5567] [KO:K04345]
リンク   
ICD-11: LD2F.1Y
OMIM: 619142 619143
文献    
  著者
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibaek M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skalhegg BS, Otaify GA, Temtamy S, Aglan M, Jonch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
  タイトル
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
  雑誌
Am J Hum Genet 107:977-988 (2020)
DOI:10.1016/j.ajhg.2020.09.005
文献    
  著者
Soberg K, Larsen AC, Diskar M, Backe PH, Bjoras M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skalhegg BS
  タイトル
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).
  雑誌
PLoS One 7:e34838 (2012)
DOI:10.1371/journal.pone.0034838
文献    
  著者
Espiard S, Drougat L, Settas N, Haydar S, Bathon K, London E, Levy I, Faucz FR, Calebiro D, Bertherat J, Li D, Levine MA, Stratakis CA
  タイトル
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
  雑誌
Endocr Relat Cancer 27:647-656 (2020)
DOI:10.1530/ERC-20-0309
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