MCID: CDK007
MIFTS: 11

Cdk13-Related Disorder

Aliases & Classifications for Cdk13-Related Disorder

MalaCards integrated aliases for Cdk13-Related Disorder:

Name: Cdk13-Related Disorder 24
Cdk13-Related Congenital Heart Defects, Dysmorphic Facial Features, Intellectual Developmental Disorder 24
Cdk13-Related Chdfidd 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance based on 43 individuals reported to date appears to be complete: all reported variants have been de novo and no unaffected individuals with a cdk13 pathogenic variant have been reported.

Summaries for Cdk13-Related Disorder

MalaCards based summary : Cdk13-Related Disorder, also known as cdk13-related congenital heart defects, dysmorphic facial features, intellectual developmental disorder, is related to alacrima, achalasia, and mental retardation syndrome and attention deficit-hyperactivity disorder. An important gene associated with Cdk13-Related Disorder is CDK13 (Cyclin Dependent Kinase 13). Affiliated tissues include heart and eye.

Wikipedia : 74 CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and... more...

GeneReviews: NBK536784

Related Diseases for Cdk13-Related Disorder

Diseases related to Cdk13-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 attention deficit-hyperactivity disorder 10.1
3 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 10.1
4 syndromic intellectual disability 10.1
5 autism spectrum disorder 10.1
6 scoliosis 10.1
7 constipation 10.1
8 pseudohypoaldosteronism 10.1

Graphical network of the top 20 diseases related to Cdk13-Related Disorder:



Diseases related to Cdk13-Related Disorder

Symptoms & Phenotypes for Cdk13-Related Disorder

Drugs & Therapeutics for Cdk13-Related Disorder

Search Clinical Trials , NIH Clinical Center for Cdk13-Related Disorder

Genetic Tests for Cdk13-Related Disorder

Anatomical Context for Cdk13-Related Disorder

MalaCards organs/tissues related to Cdk13-Related Disorder:

40
Heart, Eye

Publications for Cdk13-Related Disorder

Articles related to Cdk13-Related Disorder:

(show all 16)
# Title Authors PMID Year
1
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 61 24
29222009 2018
2
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. 24
29393965 2018
3
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 24
29021403 2018
4
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 24
28807008 2017
5
Prevalence and architecture of de novo mutations in developmental disorders. 24
28135719 2017
6
Covalent targeting of remote cysteine residues to develop CDK12 and CDK13 inhibitors. 24
27571479 2016
7
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 24
27479907 2016
8
Timing, rates and spectra of human germline mutation. 24
26656846 2016
9
Characterization of human cyclin-dependent kinase 12 (CDK12) and CDK13 complexes in C-terminal domain phosphorylation, gene transcription, and RNA processing. 24
25561469 2015
10
Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression. 24
24999027 2014
11
Cyclin K goes with Cdk12 and Cdk13. 24
22512864 2012
12
The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes. 24
22012619 2011
13
CDK13/CDC2L5 interacts with L-type cyclins and regulates alternative splicing. 24
17261272 2007
14
One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature. 61
31883531 2019
15
CDK13-Related Disorder 61
30702837 2019
16
CDK13-related disorder. 61
30904094 2019

Variations for Cdk13-Related Disorder

Expression for Cdk13-Related Disorder

Search GEO for disease gene expression data for Cdk13-Related Disorder.

Pathways for Cdk13-Related Disorder

GO Terms for Cdk13-Related Disorder

Sources for Cdk13-Related Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....