MCID: NNS031
MIFTS: 33

Non-Syndromic Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Non-Syndromic Intellectual Disability:

Name: Non-Syndromic Intellectual Disability 12 15
Intellectual Disability, Non Syndromic 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0050889

Summaries for Non-Syndromic Intellectual Disability

Disease Ontology : 12 An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.

MalaCards based summary : Non-Syndromic Intellectual Disability, also known as intellectual disability, non syndromic, is related to autosomal recessive non-syndromic intellectual disability and autosomal dominant non-syndromic intellectual disability. An important gene associated with Non-Syndromic Intellectual Disability is CC2D1A (Coiled-Coil And C2 Domain Containing 1A), and among its related pathways/superpathways are Neuroscience and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include testes, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Non-Syndromic Intellectual Disability

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Syngap1-Related Non-Syndromic Intellectual Disability

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic intellectual disability 33.7 CC2D1A LINS1 PRSS12 TRAPPC9
2 autosomal dominant non-syndromic intellectual disability 33.6 ARID1B SMARCE1 TCF4
3 x-linked non-specific intellectual disability 31.8 DLG3 GDI1 IQSEC2
4 syndromic intellectual disability 30.7 CC2D1A DLG3 IQSEC2 TCF4 TRAPPC9
5 autosomal dominant non-syndromic intellectual disability 1 12.5
6 autosomal dominant non-syndromic intellectual disability 2 12.5
7 autosomal dominant non-syndromic intellectual disability 3 12.5
8 autosomal dominant non-syndromic intellectual disability 5 12.5
9 autosomal dominant non-syndromic intellectual disability 6 12.5
10 autosomal dominant non-syndromic intellectual disability 9 12.5
11 autosomal dominant non-syndromic intellectual disability 4 12.5
12 autosomal dominant non-syndromic intellectual disability 8 12.5
13 syngap1-related non-syndromic intellectual disability 12.5
14 mental retardation, autosomal dominant 7 11.8
15 mental retardation, autosomal dominant 10 11.8
16 mental retardation, autosomal dominant 11 11.8
17 mental retardation, autosomal dominant 13 11.8
18 mental retardation, autosomal dominant 21 11.8
19 mental retardation, autosomal dominant 35 11.8
20 mental retardation, autosomal dominant 38 11.8
21 mental retardation, autosomal dominant 41 11.8
22 mental retardation, autosomal dominant 43 11.8
23 mental retardation, autosomal dominant 22 11.7
24 mental retardation, autosomal dominant 18 11.7
25 mental retardation, autosomal dominant 19 11.7
26 mental retardation, autosomal dominant 23 11.7
27 mental retardation, autosomal dominant 24 11.7
28 mental retardation, autosomal dominant 26 11.7
29 mental retardation, autosomal dominant 27 11.7
30 mental retardation, autosomal dominant 29 11.7
31 mental retardation, autosomal dominant 30 11.7
32 mental retardation, autosomal dominant 31 11.7
33 mental retardation, autosomal dominant 32 11.7
34 mental retardation, autosomal dominant 33 11.7
35 mental retardation, autosomal dominant 34 11.7
36 mental retardation, autosomal dominant 36 11.7
37 mental retardation, autosomal dominant 39 11.7
38 mental retardation, autosomal dominant 40 11.7
39 mental retardation, autosomal dominant 42 11.7
40 mental retardation, autosomal dominant 44 11.7
41 rare intellectual disability without developmental anomaly 11.3
42 coffin-siris syndrome 1 11.1
43 mental retardation, autosomal dominant 20 11.1
44 schuurs-hoeijmakers syndrome 11.1
45 xia-gibbs syndrome 11.1
46 helsmoortel-van der aa syndrome 11.1
47 white-sutton syndrome 11.1
48 mental retardation, autosomal recessive 61 11.1
49 non-syndromic x-linked intellectual disability 11.1
50 alacrima, achalasia, and mental retardation syndrome 10.7

Graphical network of the top 20 diseases related to Non-Syndromic Intellectual Disability:



Diseases related to Non-Syndromic Intellectual Disability

Symptoms & Phenotypes for Non-Syndromic Intellectual Disability

MGI Mouse Phenotypes related to Non-Syndromic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ARID1B CC2D1A CDK5 CDK5R1 DLG3 GDI1
2 nervous system MP:0003631 9.36 ARID1B CC2D1A CDK5 CDK5R1 DLG3 GDI1

Drugs & Therapeutics for Non-Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Intellectual Disability

Genetic Tests for Non-Syndromic Intellectual Disability

Anatomical Context for Non-Syndromic Intellectual Disability

MalaCards organs/tissues related to Non-Syndromic Intellectual Disability:

41
Testes

Publications for Non-Syndromic Intellectual Disability

Articles related to Non-Syndromic Intellectual Disability:

(show all 22)
# Title Authors Year
1
Mutations of ARX and non-syndromic intellectual disability in Chinese population. ( 30255221 )
2018
2
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. ( 30376817 )
2018
3
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. ( 29031008 )
2017
4
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. ( 28181389 )
2017
5
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 28439095 )
2017
6
Gene networks associated with non-syndromic intellectual disability. ( 29199528 )
2017
7
Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 27928161 )
2016
8
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. ( 27848077 )
2016
9
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
10
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. ( 26657932 )
2016
11
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. ( 27222290 )
2016
12
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. ( 26411299 )
2015
13
A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test. ( 26287547 )
2015
14
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. ( 25028595 )
2014
15
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability. ( 23826796 )
2013
16
An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual Disability. ( 24324832 )
2013
17
Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism. ( 23195952 )
2013
18
Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability. ( 22670824 )
2013
19
De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability. ( 24161494 )
2013
20
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. ( 23783460 )
2013
21
Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. ( 21995942 )
2012
22
The genetic basis of non-syndromic intellectual disability: a review. ( 21124998 )
2010

Variations for Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Non-Syndromic Intellectual Disability:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STXBP1 NM_001032221.3(STXBP1): c.1706C> T (p.Ser569Phe) single nucleotide variant Likely pathogenic rs1135401819 GRCh37 Chromosome 9, 130453057: 130453057
2 STXBP1 NM_001032221.3(STXBP1): c.1706C> T (p.Ser569Phe) single nucleotide variant Likely pathogenic rs1135401819 GRCh38 Chromosome 9, 127690778: 127690778
3 GRIA1 NM_001114183.1(GRIA1): c.2234G> A (p.Gly745Asp) single nucleotide variant not provided GRCh38 Chromosome 5, 153770379: 153770379
4 GRIA1 NM_001114183.1(GRIA1): c.2234G> A (p.Gly745Asp) single nucleotide variant not provided GRCh37 Chromosome 5, 153149939: 153149939

Expression for Non-Syndromic Intellectual Disability

Search GEO for disease gene expression data for Non-Syndromic Intellectual Disability.

Pathways for Non-Syndromic Intellectual Disability

Pathways related to Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 CDK5 CDK5R1 DLG3 OPHN1
2 10.75 CDK5 CDK5R1
3
Show member pathways
10.65 CDK5 CDK5R1
4 10.42 CDK5 CDK5R1

GO Terms for Non-Syndromic Intellectual Disability

Cellular components related to Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.76 CDK5 CDK5R1 OPHN1 PRSS12
2 neuron projection GO:0043005 9.73 CDK5 CDK5R1 DLG3 GDI1
3 neuronal cell body GO:0043025 9.71 CDK5 CDK5R1 DLG3 GDI1
4 growth cone GO:0030426 9.54 CDK5 CDK5R1 DLG3
5 axon GO:0030424 9.35 CDK5 CDK5R1 GDI1 OPHN1 PRSS12
6 neuromuscular junction GO:0031594 9.33 CDK5 CDK5R1 DLG3
7 SWI/SNF complex GO:0016514 9.32 ARID1B SMARCE1
8 nBAF complex GO:0071565 9.26 ARID1B SMARCE1
9 protein kinase 5 complex GO:0016533 8.62 CDK5 CDK5R1

Biological processes related to Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.58 CDK5 CDK5R1 OPHN1
2 nervous system development GO:0007399 9.55 ARID1B CDK5 OPHN1 SMARCE1 TCF4
3 synaptic vesicle endocytosis GO:0048488 9.49 CDK5 OPHN1
4 positive regulation of protein targeting to membrane GO:0090314 9.48 CDK5 CDK5R1
5 receptor clustering GO:0043113 9.46 CDK5 DLG3
6 regulation of synaptic transmission, glutamatergic GO:0051966 9.43 CDK5 OPHN1
7 negative regulation of axon extension GO:0030517 9.37 CDK5 CDK5R1
8 regulation of dendritic spine morphogenesis GO:0061001 9.32 CDK5 CDK5R1
9 layer formation in cerebral cortex GO:0021819 9.26 CDK5 CDK5R1
10 serine phosphorylation of STAT protein GO:0042501 8.96 CDK5 CDK5R1
11 neuron differentiation GO:0030182 8.92 CDK5 CDK5R1 OPHN1 TRAPPC9

Molecular functions related to Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor binding GO:0046875 8.96 CDK5 CDK5R1
2 ionotropic glutamate receptor binding GO:0035255 8.8 CDK5R1 DLG3 OPHN1

Sources for Non-Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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