KEGG   DISEASE: Cardioacrofacial dysplasia
Entry
H02506                      Disease                                
Name
Cardioacrofacial dysplasia
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02506  Cardioacrofacial dysplasia
Gene
(CAFD1) PRKACA [HSA:5566] [KO:K04345]
(CAFD2) PRKACB [HSA:5567] [KO:K04345]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
OMIM: 619142 619143
Reference
  Authors
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
  Title
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
  Journal
Am J Hum Genet 107:977-988 (2020)
DOI:10.1016/j.ajhg.2020.09.005
Reference
  Authors
Soberg K, Larsen AC, Diskar M, Backe PH, Bjoras M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skalhegg BS
  Title
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).
  Journal
PLoS One 7:e34838 (2012)
DOI:10.1371/journal.pone.0034838
Reference
  Authors
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
  Title
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
  Journal
Endocr Relat Cancer 27:647-656 (2020)
DOI:10.1530/ERC-20-0309
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