MCID: TRR002
MIFTS: 10

Trio-Related Intellectual Disability

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

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:



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).

GeneReviews: NBK447257

Related Diseases for Trio-Related Intellectual Disability

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



Diseases related to Trio-Related Intellectual Disability

Symptoms & Phenotypes for Trio-Related Intellectual Disability

Drugs & Therapeutics for Trio-Related Intellectual Disability

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

Genetic Tests for Trio-Related Intellectual Disability

Anatomical Context for Trio-Related Intellectual Disability

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
27418539 2016
2
Analysis of protein-coding genetic variation in 60,706 humans. 24
27535533 2016
3
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. 24
26721934 2016
4
Timing, rates and spectra of human germline mutation. 24
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
25741868 2015
6
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
7
Synaptic, transcriptional and chromatin genes disrupted in autism. 24
25363760 2014
8
The contribution of de novo coding mutations to autism spectrum disorder. 24
25363768 2014
9
De novo mutations in epileptic encephalopathies. 24
23934111 2013
10
Rho GTPase signaling at the synapse: implications for intellectual disability. 24
23769912 2013
11
Diagnostic exome sequencing in persons with severe intellectual disability. 24
23033978 2012
12
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 24
22495306 2012
13
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 24
22495309 2012
14
The role of the Rho GTPases in neuronal development. 24
15630019 2005
15
TRIO-Related Intellectual Disability 61
28796471 2017

Variations for Trio-Related Intellectual Disability

Expression for Trio-Related Intellectual Disability

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

Pathways for Trio-Related Intellectual Disability

GO Terms for Trio-Related Intellectual Disability

Sources for Trio-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
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