MCID: NNS031
MIFTS: 32

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 29 6 15

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 is related to autosomal dominant non-syndromic intellectual disability and coffin-siris syndrome 1. An important gene associated with Non-Syndromic Intellectual Disability is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Neuroscience and Amphetamine addiction. Affiliated tissues include testes, and related phenotypes are behavior/neurological and mortality/aging

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
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Non-Syndromic Intellectual Disability 24
Autosomal Dominant Non-Syndromic Intellectual Disability 27 Autosomal Dominant Non-Syndromic Intellectual Disability 32
Autosomal Dominant Non-Syndromic Intellectual Disability 44 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 89)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.8 TCF4 STXBP1 SMARCE1 MIR9-1 H2AC18 ARID1B
2 coffin-siris syndrome 1 31.9 SMARCE1 MIR9-1 H2AC18 ARID1B
3 alacrima, achalasia, and mental retardation syndrome 31.1 TRAPPC9 TCF4 STXBP1 DLG3 ARX AHDC1
4 syndromic intellectual disability 30.7 ZNF407 TCF4 STXBP1 MEF2C H2AC18 GRIA1
5 rett syndrome 30.2 TCF4 STXBP1 MEF2C H2AC18 GRIA1
6 autism 30.0 TRIP12 TCF4 STXBP1 MEF2C GRIA1 DLG3
7 microcephaly 29.6 TRAPPC9 TCF4 STXBP1 MIR9-1 H2AC18 DLG3
8 autosomal recessive non-syndromic intellectual disability 12.8
9 autosomal dominant non-syndromic intellectual disability 1 12.7
10 autosomal dominant non-syndromic intellectual disability 2 12.7
11 autosomal dominant non-syndromic intellectual disability 3 12.7
12 autosomal dominant non-syndromic intellectual disability 4 12.7
13 autosomal dominant non-syndromic intellectual disability 5 12.7
14 autosomal dominant non-syndromic intellectual disability 6 12.7
15 autosomal dominant non-syndromic intellectual disability 8 12.7
16 autosomal dominant non-syndromic intellectual disability 9 12.7
17 autosomal dominant non-syndromic intellectual disability 19 12.7
18 autosomal dominant non-syndromic intellectual disability 24 12.7
19 autosomal dominant non-syndromic intellectual disability 27 12.7
20 autosomal dominant non-syndromic intellectual disability 32 12.7
21 autosomal dominant non-syndromic intellectual disability 44 12.7
22 syngap1-related non-syndromic intellectual disability 12.6
23 mental retardation, autosomal dominant 22 12.0
24 mental retardation, autosomal dominant 7 12.0
25 mental retardation, autosomal dominant 10 12.0
26 mental retardation, autosomal dominant 11 12.0
27 mental retardation, autosomal dominant 13 12.0
28 mental retardation, autosomal dominant 18 12.0
29 mental retardation, autosomal dominant 21 12.0
30 mental retardation, autosomal dominant 29 12.0
31 mental retardation, autosomal dominant 30 12.0
32 mental retardation, autosomal dominant 33 12.0
33 mental retardation, autosomal dominant 35 12.0
34 mental retardation, autosomal dominant 36 12.0
35 mental retardation, autosomal dominant 38 12.0
36 mental retardation, autosomal dominant 40 12.0
37 mental retardation, autosomal dominant 41 12.0
38 mental retardation, autosomal dominant 42 12.0
39 mental retardation, autosomal dominant 43 12.0
40 non-syndromic x-linked intellectual disability 12.0
41 mental retardation, autosomal dominant 23 11.9
42 mental retardation, autosomal dominant 26 11.9
43 mental retardation, autosomal dominant 31 11.9
44 mental retardation, autosomal dominant 34 11.9
45 mental retardation, autosomal dominant 39 11.9
46 clark-baraitser syndrome 11.5
47 rare intellectual disability without developmental anomaly 11.5
48 mental retardation, autosomal dominant 20 11.2
49 schuurs-hoeijmakers syndrome 11.2
50 xia-gibbs syndrome 11.2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ARID1B ARX CDK5 CDK5R1 DLG3 GRIA1
2 mortality/aging MP:0010768 9.77 ARID1B ARX CDK5 CDK5R1 DLG3 LINS1
3 integument MP:0010771 9.76 ARID1B ARX CDK5 CDK5R1 GRIA1 MEF2C
4 nervous system MP:0003631 9.36 ARID1B ARX CDK5 CDK5R1 DLG3 GRIA1

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

Genetic tests related to Non-Syndromic Intellectual Disability:

# Genetic test Affiliating Genes
1 Non-Syndromic Intellectual Disability 29

Anatomical Context for Non-Syndromic Intellectual Disability

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

40
Testes

Publications for Non-Syndromic Intellectual Disability

Articles related to Non-Syndromic Intellectual Disability:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61
31898314 2020
2
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. 61
31978613 2020
3
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. 61
31694657 2019
4
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. 61
31440727 2019
5
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. 61
31439632 2019
6
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability. 61
30594563 2019
7
Mutations of ARX and non-syndromic intellectual disability in Chinese population. 61
30255221 2019
8
A cross sectional study to evaluate the oral health status of children with intellectual disabilities in the National Capital Region of India (Delhi-NCR). 61
30338591 2019
9
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. 61
30376817 2018
10
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. 61
30167849 2018
11
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 61
28708303 2018
12
Gene networks associated with non-syndromic intellectual disability. 61
29199528 2018
13
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report. 61
29558889 2018
14
Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity. 61
29552027 2018
15
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant. 61
30181777 2018
16
Diagnostic value of partial exome sequencing in developmental disorders. 61
30091983 2018
17
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. 61
29031008 2017
18
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 61
28973667 2017
19
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female. 61
28345786 2017
20
Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics. 61
26971292 2017
21
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. 61
28181389 2017
22
Novel KCNB1 mutation associated with non-syndromic intellectual disability. 61
27928161 2017
23
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. 61
28439095 2017
24
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 61
28143899 2017
25
The KIF1A homolog Unc-104 is important for spontaneous release, postsynaptic density maturation and perisynaptic scaffold organization. 61
28344334 2017
26
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 61
27848077 2017
27
The intellectual disability protein PAK3 regulates oligodendrocyte precursor cell differentiation. 61
27940202 2017
28
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. 61
27570168 2016
29
Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth. 61
27702999 2016
30
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. 61
27222290 2016
31
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. 61
27132474 2016
32
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. 61
26657932 2016
33
Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome? 61
27980676 2016
34
Advances in understanding - genetic basis of intellectual disability. 61
27127621 2016
35
The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation. 61
27656128 2016
36
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. 61
26411299 2015
37
Stability of cognitive performance in children with mild intellectual disability. 61
25363202 2015
38
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. 61
25099252 2015
39
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. 61
25305082 2015
40
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability. 61
26082802 2015
41
A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test. 61
26287547 2015
42
Analysis of preplate splitting and early cortical development illuminates the biology of neurological disease. 61
25426475 2014
43
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. 61
25028595 2014
44
De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability. 61
24161494 2013
45
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 61
24132240 2013
46
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. 61
23783460 2013
47
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability. 61
23826796 2013
48
SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity. 61
23785156 2013
49
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. 61
23195952 2013
50
Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability. 61
22670824 2013

Variations for Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Non-Syndromic Intellectual Disability:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_001032221.4(STXBP1):c.1706C>T (p.Ser569Phe)SNV Likely pathogenic 431152 rs1135401819 9:130453057-130453057 9:127690778-127690778
2 GRIA1 NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp)SNV not provided 585059 rs1561846159 5:153149939-153149939 5:153770379-153770379

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 12.09 STXBP1 GRIA1 DLG3 CDK5R1 CDK5
2
Show member pathways
11.62 GRIA1 CDK5R1 CDK5
3
Show member pathways
11.53 STXBP1 CDK5R1 CDK5
4 11.42 MEF2C GRIA1 CDK5R1 CDK5
5
Show member pathways
11.39 GRIA1 CDK5R1 CDK5
6
Show member pathways
10.29 MEF2C CDK5R1 CDK5

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 postsynaptic density GO:0014069 9.46 GRIA1 DLG3 CDK5R1 CDK5
2 ionotropic glutamate receptor complex GO:0008328 9.32 GRIA1 DLG3
3 nBAF complex GO:0071565 9.26 SMARCE1 ARID1B
4 postsynapse GO:0098794 9.26 STXBP1 MEF2C GRIA1 CDK5
5 protein kinase 5 complex GO:0016533 8.62 CDK5R1 CDK5

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.63 TCF4 SMARCE1 MEF2C CDK5 ARX ARID1B
2 neuron differentiation GO:0030182 9.62 TRAPPC9 MEF2C CDK5R1 CDK5
3 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.43 STXBP1 CDK5
4 long-term synaptic depression GO:0060292 9.4 STXBP1 GRIA1
5 layer formation in cerebral cortex GO:0021819 9.37 CDK5R1 CDK5
6 serine phosphorylation of STAT protein GO:0042501 9.26 CDK5R1 CDK5
7 neuron migration GO:0001764 9.26 MEF2C CDK5R1 CDK5 ARX
8 regulation of NMDA receptor activity GO:2000310 8.8 MEF2C GRIA1 DLG3

Sources for Non-Syndromic 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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