KEGG   DISEASE: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Entry
H02454                      Disease                                
Name
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Description
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations affecting the protein kinase domain of CDK13 cause this syndrome.
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
    H02454  Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Gene
CDK13 [HSA:8621] [KO:K08819]
Other DBs
ICD-11: LD2F.1Y
OMIM: 617360
Reference
PMID:29021403
  Authors
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M
  Title
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
  Journal
J Med Genet 55:28-38 (2018)
DOI:10.1136/jmedgenet-2017-104620
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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