Wac-Related Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

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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). Affiliated tissues include eye.

GeneReviews: NBK465012

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Related Diseases for Wac-Related Intellectual Disability

Diseases in the Rare Intellectual Disability family:

Bcl11a-Related Intellectual Disability	Dyrk1a-Related Intellectual Disability Syndrome
Syngap1-Related Intellectual Disability	Trio-Related Intellectual Disability
Wac-Related Intellectual Disability	Wdr26-Related Intellectual Disability
Acsl4-Related Intellectual Disability	Arx-Related Intellectual Disability
Autosomal Dominant Intellectual Disability 30	Autosomal Dominant Intellectual Disability 40
Autosomal Dominant Intellectual Disability 49	Autosomal Recessive Intellectual Disability 58
Ddx3x-Related Intellectual Disability	Hivep2-Related Intellectual Disability
Cask-Related Intellectual Disability	Ppp2r5d-Related Intellectual Disability
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	Sin3a-Related Intellectual Disability Syndrome

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

#	Related Disease	Score
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:

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Symptoms & Phenotypes for Wac-Related Intellectual Disability

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Drugs & Therapeutics for Wac-Related Intellectual Disability

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

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Genetic Tests for Wac-Related Intellectual Disability

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Anatomical Context for Wac-Related Intellectual Disability

MalaCards organs/tissues related to Wac-Related Intellectual Disability:

⁴⁰

Eye

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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	Lek M...Exome Aggregation Consortium	27535533	2016
2	De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. ²⁴	Lugtenberg D...Vissers LE	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	Abdelhedi F...Dupont JM	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	DeSanto C...Shinawi M	26264232	2015
5	Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. ²⁴	Tammimies K...Fernandez BA	26325558	2015
6	Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31. ²⁴	Sosoi S...Mixich F	25652353	2015
7	Large-scale discovery of novel genetic causes of developmental disorders. ²⁴	Deciphering Developmental Disorders Study	25533962	2015
8	De novo mutations in moderate or severe intellectual disability. ²⁴	Hamdan FF...Michaud JL	25356899	2014
9	Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism. ²⁴	Mroczkowski HJ...Yatsenko SA	25073539	2014
10	Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. ²⁴	Okamoto N...Inazawa J	22258158	2012
11	Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. ²⁴	Wentzel C...Thuresson AC	21522184	2011
12	WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription. ²⁴	Zhang F...Yu X	21329877	2011
13	Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. ²⁴	Shahdadpuri R...Reardon W	18080323	2008
14	WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35. ²⁴	Xu GM...Arnaout MA	11827461	2002
15	WAC-Related Intellectual Disability ⁶¹	Varvagiannis K...Vissers LELM	29190062	2017

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Genes for Wac-Related Intellectual Disability

Genes related to Wac-Related Intellectual Disability (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WAC	WW Domain Containing Adaptor With Coiled-Coil	Protein Coding	7.28	GeneCards inferred via : Publications (show sections)

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Variations for Wac-Related Intellectual Disability

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Expression for Wac-Related Intellectual Disability

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

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Pathways for Wac-Related Intellectual Disability

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GO Terms for Wac-Related Intellectual Disability

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