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

Sources

Aliases & Classifications for Trio-Related Intellectual Disability

MalaCards integrated aliases for Trio-Related Intellectual Disability:

Name: Trio-Related Intellectual Disability ²⁴

Characteristics:

GeneReviews:

²⁴

Penetrance Information available is insufficient to allow conclusions regarding the penetrance of trio pathogenic variants. based on the family reported by pengelly et al [2016], some degree of intrafamilial clinical variability can be seen. variable expressivity may lead to underascertainment of mildly affected individuals and possibly explain the presence (on rare occasions) of individuals harboring presumably pathogenic variants in trio in control population-based cohorts such as the exome aggregation consortium (exac) [lek et al 2016].

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)

Sources

Summaries for Trio-Related Intellectual Disability

MalaCards based summary : Trio-Related Intellectual Disability is related to attention deficit-hyperactivity disorder and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Trio-Related Intellectual Disability is TRIO (Trio Rho Guanine Nucleotide Exchange Factor). Affiliated tissues include eye.

GeneReviews: NBK447257

Sources

Related Diseases for Trio-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 Trio-Related Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	attention deficit-hyperactivity disorder	10.2
2	alacrima, achalasia, and mental retardation syndrome	10.2
3	mental retardation, autosomal dominant 44	10.2
4	autism spectrum disorder	10.2
5	microcephaly	10.2

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

Sources

Symptoms & Phenotypes for Trio-Related Intellectual Disability

Sources

Drugs & Therapeutics for Trio-Related Intellectual Disability

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

Sources

Genetic Tests for Trio-Related Intellectual Disability

Sources

Anatomical Context for Trio-Related Intellectual Disability

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

⁴⁰

Eye

Sources

Publications for Trio-Related Intellectual Disability

Articles related to Trio-Related Intellectual Disability:

(show all 15)

#	Title	Authors	PMID	Year
1	Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. ²⁴	Pengelly RJ...Baralle D	27418539	2016
2	Analysis of protein-coding genetic variation in 60,706 humans. ²⁴	Lek M...Exome Aggregation Consortium	27535533	2016
3	TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. ²⁴	Ba W...De Vries BB	26721934	2016
4	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
5	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ²⁴	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
6	Large-scale discovery of novel genetic causes of developmental disorders. ²⁴	Deciphering Developmental Disorders Study	25533962	2015
7	Synaptic, transcriptional and chromatin genes disrupted in autism. ²⁴	De Rubeis S...Buxbaum JD	25363760	2014
8	The contribution of de novo coding mutations to autism spectrum disorder. ²⁴	Iossifov I...Wigler M	25363768	2014
9	De novo mutations in epileptic encephalopathies. ²⁴	Epi4K Consortium...Winawer MR	23934111	2013
10	Rho GTPase signaling at the synapse: implications for intellectual disability. ²⁴	Ba W...Nadif Kasri N	23769912	2013
11	Diagnostic exome sequencing in persons with severe intellectual disability. ²⁴	de Ligt J...Vissers LE	23033978	2012
12	De novo mutations revealed by whole-exome sequencing are strongly associated with autism. ²⁴	Sanders SJ...State MW	22495306	2012
13	Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. ²⁴	O'Roak BJ...Eichler EE	22495309	2012
14	The role of the Rho GTPases in neuronal development. ²⁴	Govek EE...Van Aelst L	15630019	2005
15	TRIO-Related Intellectual Disability ⁶¹	Varvagiannis K...de Vries BBA	28796471	2017

Sources

Genes for Trio-Related Intellectual Disability

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRIO	Trio Rho Guanine Nucleotide Exchange Factor	Protein Coding	7.19	GeneCards inferred via : Publications (show sections)

Sources

Variations for Trio-Related Intellectual Disability

Sources

Expression for Trio-Related Intellectual Disability

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

Sources

Pathways for Trio-Related Intellectual Disability

Sources

GO Terms for Trio-Related Intellectual Disability

Sources

Sources for Trio-Related Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia