MCID: WCR002
MIFTS: 10

Wac-Related Intellectual Disability

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

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.

Classifications:



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

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
Analysis of protein-coding genetic variation in 60,706 humans. 24
27535533 2016
2
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. 24
26757981 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. 24
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. 24
26264232 2015
5
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. 24
26325558 2015
6
Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31. 24
25652353 2015
7
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
8
De novo mutations in moderate or severe intellectual disability. 24
25356899 2014
9
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism. 24
25073539 2014
10
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. 24
22258158 2012
11
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. 24
21522184 2011
12
WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. 24
21329877 2011
13
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. 24
18080323 2008
14
WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35. 24
11827461 2002
15
WAC-Related Intellectual Disability 61
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 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....