MCID: ATS203
MIFTS: 36

Autosomal Dominant Non-Syndromic Intellectual Disability

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 12 52 58 29 15
Mental Retardation, Autosomal Dominant 6 39
Autosomal Dominant Mental Retardation 12 36
Autosomal Dominant Non-Syndromic Mental Retardation 12

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060307
KEGG 36 H00773
Orphanet 58 ORPHA178469

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

KEGG : 36 Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most MR genes identified so far were either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as mental retardation, autosomal dominant, is related to autosomal dominant non-syndromic intellectual disability 4 and autosomal dominant non-syndromic intellectual disability 3. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Dopaminergic synapse and Adrenergic signaling in cardiomyocytes. Related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.

Related Diseases for Autosomal Dominant 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 27
Syngap1-Related Non-Syndromic Intellectual Disability

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 4 35.4 KIRREL3 CDH15
2 autosomal dominant non-syndromic intellectual disability 3 35.3 KIRREL3 CDH15
3 mental retardation, autosomal dominant 30 34.3 ZMYND11 CIC
4 mental retardation, autosomal dominant 13 34.3 DYNC1H1 DEAF1
5 mental retardation, autosomal dominant 24 33.9 DYNC1H1 DEAF1
6 autism 31.5 SYNGAP1 SCN2A MBD5 KIF1A GRIN2B GRIN1
7 autism spectrum disorder 31.4 ZNF462 SYNGAP1 SCN2A MBD5 GRIN2B DEAF1
8 alacrima, achalasia, and mental retardation syndrome 31.2 STXBP1 GRIN2B GRIN1 CAMK2A
9 autosomal dominant non-syndromic intellectual disability 1 12.8
10 autosomal dominant non-syndromic intellectual disability 2 12.8
11 autosomal dominant non-syndromic intellectual disability 5 12.8
12 autosomal dominant non-syndromic intellectual disability 6 12.8
13 autosomal dominant non-syndromic intellectual disability 8 12.8
14 autosomal dominant non-syndromic intellectual disability 9 12.8
15 autosomal dominant non-syndromic intellectual disability 19 12.8
16 autosomal dominant non-syndromic intellectual disability 27 12.8
17 mental retardation, autosomal dominant 6, with or without seizures 12.7
18 mental retardation, autosomal dominant 55, with seizures 12.6
19 mental retardation, autosomal dominant 57 12.6
20 mental retardation, autosomal dominant 58 12.6
21 autosomal dominant mental retardation 55 12.3
22 mental retardation, autosomal dominant 22 12.1
23 mental retardation, autosomal dominant 7 12.1
24 mental retardation, autosomal dominant 10 12.1
25 mental retardation, autosomal dominant 11 12.1
26 mental retardation, autosomal dominant 18 12.1
27 mental retardation, autosomal dominant 21 12.1
28 mental retardation, autosomal dominant 29 12.1
29 mental retardation, autosomal dominant 33 12.1
30 mental retardation, autosomal dominant 35 12.1
31 mental retardation, autosomal dominant 36 12.1
32 mental retardation, autosomal dominant 38 12.1
33 mental retardation, autosomal dominant 40 12.1
34 mental retardation, autosomal dominant 41 12.1
35 mental retardation, autosomal dominant 43 12.1
36 mental retardation, autosomal dominant 44 12.1
37 coffin-siris syndrome 9 12.1
38 mental retardation, autosomal dominant 23 12.0
39 mental retardation, autosomal dominant 26 12.0
40 mental retardation, autosomal dominant 31 12.0
41 mental retardation, autosomal dominant 32 12.0
42 mental retardation, autosomal dominant 34 12.0
43 mental retardation, autosomal dominant 39 12.0
44 mental retardation, autosomal dominant 42 12.0
45 neurodevelopmental disorder with spastic diplegia and visual defects 11.7
46 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.7
47 mental retardation, autosomal dominant 48 11.5
48 intellectual developmental disorder 59 11.5
49 intellectual developmental disorder 60 with seizures 11.5
50 coffin-siris syndrome 1 11.3

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



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.09 BRSK2 CAMK2A
2 Decreased viability GR00221-A-2 10.09 BRSK2
3 Decreased viability GR00221-A-3 10.09 BRSK2
4 Decreased viability GR00221-A-4 10.09 BRSK2 CAMK2A
5 Decreased viability GR00381-A-1 10.09 DOCK8
6 Decreased viability GR00402-S-2 10.09 BRSK2 CACNG2 CAMK2A CDH15 CHAMP1 CIC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.97 DYNC1H1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.97 ZNF462
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.97 CIC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.97 DYNC1H1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.97 CIC DYNC1H1 ZMYND11 ZNF462
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.97 ZMYND11
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.97 CIC
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.97 ZMYND11
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.97 DYNC1H1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.97 CIC
17 no effect GR00402-S-1 9.62 BRSK2 CACNG2 CAMK2A CDH15 CHAMP1 CIC

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 BRSK2 CACNG2 CAMK2A CIC DEAF1 DYNC1H1
2 growth/size/body region MP:0005378 9.97 CACNG2 CAMK2A CIC DYNC1H1 GRIN1 GRIN2B
3 mortality/aging MP:0010768 9.86 BRSK2 CACNG2 CAMK2A CIC DEAF1 DYNC1H1
4 nervous system MP:0003631 9.58 BRSK2 CACNG2 CAMK2A CIC DEAF1 DOCK8

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability

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

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability

Genetic tests related to Autosomal Dominant Non-Syndromic Intellectual Disability:

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

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability:

# Title Authors PMID Year
1
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. 61
30858058 2020
2
GATAD2B-related intellectual disability due to parental mosaicism and review of literature. 61
31205050 2019
3
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 61
30796847 2019
4
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. 61
29700199 2018

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A):c.3697G>T (p.Glu1233Ter)SNV Pathogenic 377394 rs1057519617 2:166226657-166226657 2:165370147-165370147
2 ZNF462 NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)SNV Pathogenic 402116 rs1060499549 9:109689980-109689980 9:106927699-106927699
3 ZNF462 NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)deletion Pathogenic 402117 rs1060499551 9:109690455-109690455 9:106928174-106928174
4 ZNF462 NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)indel Pathogenic 402118 rs1060499550 9:109689172-109689173 9:106926891-106926892
5 SMARCA2 NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val)SNV Uncertain significance 377393 rs771591197 9:2081976-2081976 9:2081976-2081976
6 KAT6B NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys)SNV Likely benign 377388 rs1057519623 10:76784887-76784887 10:75025129-75025129
7 NAA10 NM_003491.4(NAA10):c.583C>T (p.Arg195Cys)SNV Likely benign 377389 rs1057519620 X:153195565-153195565 X:153930112-153930112

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability

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

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability according to KEGG:

36
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728
2 Adrenergic signaling in cardiomyocytes hsa04261
3 cAMP signaling pathway hsa04024
4 Ras signaling pathway hsa04014

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.65 KIF1A GRIN2B GRIN1 CAMK2A CACNG2
2 glutamatergic synapse GO:0098978 9.55 SYNGAP1 STXBP1 SCN2A GRIN1 CACNG2
3 postsynaptic density GO:0014069 9.35 SYNGAP1 GRIN2B GRIN1 CAMK2A CACNG2
4 NMDA selective glutamate receptor complex GO:0017146 9.32 GRIN2B GRIN1
5 postsynaptic density membrane GO:0098839 8.8 GRIN2B GRIN1 CACNG2

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SCN2A KCNQ5 GRIN2B GRIN1 CACNG2
2 memory GO:0007613 9.54 SCN2A GRIN1 CIC
3 ionotropic glutamate receptor signaling pathway GO:0035235 9.48 GRIN2B GRIN1
4 regulation of long-term neuronal synaptic plasticity GO:0048169 9.43 SYNGAP1 GRIN1
5 regulation of neuronal synaptic plasticity GO:0048168 9.4 GRIN1 CAMK2A
6 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.32 GRIN2B GRIN1
7 excitatory chemical synaptic transmission GO:0098976 9.26 GRIN2B GRIN1
8 calcium ion transmembrane import into cytosol GO:0097553 9.16 GRIN2B GRIN1
9 regulation of synaptic plasticity GO:0048167 9.13 SYNGAP1 GRIN2B GRIN1
10 visual learning GO:0008542 8.8 SYNGAP1 GRIN1 DEAF1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 ZNF462 ZMYND11 STXBP1 SCN2A KIRREL3 KIF1A
2 glycine binding GO:0016594 9.32 GRIN2B GRIN1
3 ionotropic glutamate receptor activity GO:0004970 9.26 GRIN2B GRIN1
4 glutamate binding GO:0016595 9.16 GRIN2B GRIN1
5 NMDA glutamate receptor activity GO:0004972 8.96 GRIN2B GRIN1
6 glutamate-gated calcium ion channel activity GO:0022849 8.62 GRIN2B GRIN1

Sources for Autosomal Dominant 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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