MCID: WCR002
MIFTS: 7

Wac-Related Intellectual Disability

Aliases & Classifications for Wac-Related Intellectual Disability

MalaCards integrated aliases for Wac-Related Intellectual Disability:

Name: Wac-Related Intellectual Disability 24

Characteristics:

GeneReviews:

24
Penetrance To date all individuals with wac-related intellectual disability have the disorder as the result of a de novo pathogenic variant or germline mosaicism. based on the published cases, the penetrance is complete (100%). reliable estimates on the penetrance of the disorder are however difficult to establish given that most affected individuals have been identified through the discovery of a de novo and/or loss-of-function variant in wac.

Summaries for Wac-Related Intellectual Disability

MalaCards based summary : Wac-Related Intellectual Disability is related to attention deficit-hyperactivity disorder and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Wac-Related Intellectual Disability is WAC (WW Domain Containing Adaptor With Coiled-Coil).

GeneReviews: NBK465012

Related Diseases for Wac-Related Intellectual Disability

Diseases related to Wac-Related Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 10.3
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 desanto-shinawi syndrome 10.3
4 autism spectrum disorder 10.3
5 hypotonia 10.3

Graphical network of the top 20 diseases related to Wac-Related Intellectual Disability:



Diseases related to Wac-Related Intellectual Disability

Symptoms & Phenotypes for Wac-Related Intellectual Disability

Drugs & Therapeutics for Wac-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Wac-Related Intellectual Disability

Genetic Tests for Wac-Related Intellectual Disability

Anatomical Context for Wac-Related Intellectual Disability

Publications for Wac-Related Intellectual Disability

Articles related to Wac-Related Intellectual Disability:

(show all 15)
# Title Authors PMID Year
1
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 4
26757981 2016
2
Analysis of protein-coding genetic variation in 60,706 humans. 4
27535533 2016
3
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. 4
27119754 2016
4
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. 4
26264232 2015
5
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. 4
26325558 2015
6
Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31. 4
25652353 2015
7
Large-scale discovery of novel genetic causes of developmental disorders. 4
25533962 2015
8
De novo mutations in moderate or severe intellectual disability. 4
25356899 2014
9
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism. 4
25073539 2014
10
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. 4
22258158 2012
11
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. 4
21522184 2011
12
WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. 4
21329877 2011
13
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. 4
18080323 2008
14
WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35. 4
11827461 2002
15
WAC-Related Intellectual Disability 38
29190062 2017

Variations for Wac-Related Intellectual Disability

Expression for Wac-Related Intellectual Disability

Search GEO for disease gene expression data for Wac-Related Intellectual Disability.

Pathways for Wac-Related Intellectual Disability

GO Terms for Wac-Related Intellectual Disability

Sources for Wac-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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