KEGG   DISEASE: Congenital heart defects and ectodermal dysplasia
Entry
H02453                      Disease                                
Name
Congenital heart defects and ectodermal dysplasia
Description
Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular functions.
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
    H02453  Congenital heart defects and ectodermal dysplasia
Gene
PRKD1 [HSA:5587] [KO:K06070]
Other DBs
ICD-11: LD2F.1Y
OMIM: 617364
Reference
PMID:27479907
  Authors
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME
  Title
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
  Journal
Nat Genet 48:1060-5 (2016)
DOI:10.1038/ng.3627
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