MCID: ATS203
MIFTS: 35

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 54 60 15
Autosomal Dominant Mental Retardation 12 38
Autosomal Dominant Non-Syndromic Mental Retardation 12
Mental Retardation, Autosomal Dominant ) 41
Mental Retardation, Autosomal Dominant 6

Characteristics:

Orphanet epidemiological data:

60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060307
KEGG 38 H00773
Orphanet 60 ORPHA178469

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

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

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as autosomal dominant mental retardation, is related to autosomal dominant non-syndromic intellectual disability 1 and autosomal dominant non-syndromic intellectual disability 2. 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 no effect and behavior/neurological

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 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 78)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 1 12.7
2 autosomal dominant non-syndromic intellectual disability 2 12.7
3 autosomal dominant non-syndromic intellectual disability 3 12.7
4 autosomal dominant non-syndromic intellectual disability 4 12.7
5 autosomal dominant non-syndromic intellectual disability 5 12.7
6 autosomal dominant non-syndromic intellectual disability 6 12.7
7 autosomal dominant non-syndromic intellectual disability 9 12.7
8 autosomal dominant non-syndromic intellectual disability 8 12.6
9 autosomal dominant non-syndromic intellectual disability 19 12.6
10 mental retardation, autosomal dominant 6, with or without seizures 12.6
11 mental retardation, autosomal dominant 55, with seizures 12.5
12 mental retardation, autosomal dominant 57 12.5
13 mental retardation, autosomal dominant 58 12.5
14 autosomal dominant mental retardation 55 12.2
15 mental retardation, autosomal dominant 7 12.0
16 mental retardation, autosomal dominant 10 12.0
17 mental retardation, autosomal dominant 11 12.0
18 mental retardation, autosomal dominant 13 12.0
19 mental retardation, autosomal dominant 21 12.0
20 mental retardation, autosomal dominant 24 12.0
21 mental retardation, autosomal dominant 32 12.0
22 mental retardation, autosomal dominant 35 12.0
23 mental retardation, autosomal dominant 38 12.0
24 mental retardation, autosomal dominant 41 12.0
25 mental retardation, autosomal dominant 43 12.0
26 neurodevelopmental disorder with spastic diplegia and visual defects 12.0
27 mental retardation, autosomal dominant 22 11.9
28 mental retardation, autosomal dominant 18 11.9
29 mental retardation, autosomal dominant 23 11.9
30 mental retardation, autosomal dominant 26 11.9
31 mental retardation, autosomal dominant 27 11.9
32 mental retardation, autosomal dominant 29 11.9
33 mental retardation, autosomal dominant 30 11.9
34 mental retardation, autosomal dominant 31 11.9
35 mental retardation, autosomal dominant 33 11.9
36 mental retardation, autosomal dominant 34 11.9
37 mental retardation, autosomal dominant 36 11.9
38 mental retardation, autosomal dominant 39 11.9
39 mental retardation, autosomal dominant 40 11.9
40 mental retardation, autosomal dominant 42 11.9
41 mental retardation, autosomal dominant 44 11.9
42 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.6
43 adnp syndrome 11.3
44 coffin-siris syndrome 1 11.2
45 mental retardation, autosomal dominant 20 11.2
46 schuurs-hoeijmakers syndrome 11.2
47 xia-gibbs syndrome 11.2
48 helsmoortel-van der aa syndrome 11.2
49 white-sutton syndrome 11.2
50 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CACNG2 CAMK2A CAMK2B CDH15 CUX1 DEAF1

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 CACNG2 CAMK2A CAMK2B DEAF1 DYNC1H1 EEF1A2
2 growth/size/body region MP:0005378 10 CACNG2 CAMK2A CAMK2B DYNC1H1 EEF1A2 GRIN1
3 mortality/aging MP:0010768 9.8 CACNG2 CAMK2A DEAF1 DYNC1H1 EEF1A2 GRIN1
4 nervous system MP:0003631 9.58 CACNG2 CAMK2A CAMK2B DEAF1 DOCK8 DYNC1H1

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

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 Year
1
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. ( 30451703 )
2019
2
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient. ( 30572772 )
2018
3
[Autosomal dominant mental retardation]. ( 16506130 )
2006

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 KAT6B NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys) single nucleotide variant Likely benign rs1057519623 GRCh38 Chromosome 10, 75025129: 75025129
2 KAT6B NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys) single nucleotide variant Likely benign rs1057519623 GRCh37 Chromosome 10, 76784887: 76784887
3 NAA10 NM_003491.3(NAA10): c.583C> T (p.Arg195Cys) single nucleotide variant Likely benign rs1057519620 GRCh38 Chromosome X, 153930112: 153930112
4 NAA10 NM_003491.3(NAA10): c.583C> T (p.Arg195Cys) single nucleotide variant Likely benign rs1057519620 GRCh37 Chromosome X, 153195565: 153195565
5 SMARCA2 NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val) single nucleotide variant Uncertain significance rs771591197 GRCh37 Chromosome 9, 2081976: 2081976
6 SMARCA2 NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val) single nucleotide variant Uncertain significance rs771591197 GRCh38 Chromosome 9, 2081976: 2081976
7 SCN2A NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter) single nucleotide variant Pathogenic rs1057519617 GRCh37 Chromosome 2, 166226657: 166226657
8 SCN2A NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter) single nucleotide variant Pathogenic rs1057519617 GRCh38 Chromosome 2, 165370147: 165370147
9 ZNF462 NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 GRCh37 Chromosome 9, 109689980: 109689980
10 ZNF462 NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 GRCh38 Chromosome 9, 106927699: 106927699
11 ZNF462 NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs) deletion Pathogenic rs1060499551 GRCh37 Chromosome 9, 109690456: 109690456
12 ZNF462 NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs) deletion Pathogenic rs1060499551 GRCh38 Chromosome 9, 106928175: 106928175
13 ZNF462 NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs) indel Pathogenic rs1060499550 GRCh37 Chromosome 9, 109689172: 109689173
14 ZNF462 NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs) indel Pathogenic rs1060499550 GRCh38 Chromosome 9, 106926891: 106926892

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:

38
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728
2 Adrenergic signaling in cardiomyocytes hsa04261
3 cAMP signaling pathway hsa04024

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 CACNG2 CAMK2A CAMK2B CDH15 GRIN1 GRIN2B
2
Show member pathways
12.66 CACNG2 CAMK2A CAMK2B EPB41L1 GRIN1 GRIN2B
3
Show member pathways
12.45 CAMK2A CAMK2B GRIN1 GRIN2B SCN2A
4 12.22 CAMK2A CAMK2B CDH15 TCF4
5 12.14 CAMK2A CAMK2B GRIN1 GRIN2B
6
Show member pathways
12.05 CAMK2A CAMK2B GRIN1 GRIN2B
7
Show member pathways
11.95 CAMK2A CAMK2B GRIN1 GRIN2B
8
Show member pathways
11.82 EPB41L1 GRIN1 GRIN2B STXBP1
9
Show member pathways
11.77 CAMK2A CAMK2B CDH15 TCF4
10 11.76 CACNG2 CAMK2A CAMK2B GRIN1 GRIN2B SCN2A
11
Show member pathways
11.74 CAMK2A CAMK2B GRIN1 GRIN2B
12 11.45 CAMK2A CAMK2B TCF4
13
Show member pathways
11.33 CACNG2 CAMK2A CAMK2B SCN2A
14 11.13 CAMK2A CAMK2B GRIN1 GRIN2B
15 10.87 GRIN1 GRIN2B

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 synapse GO:0045202 9.73 CACNG2 CAMK2A CAMK2B EEF1A2 GRIN1 GRIN2B
2 glutamatergic synapse GO:0098978 9.72 CACNG2 GRIN1 SCN2A STXBP1 SYNGAP1
3 postsynaptic density GO:0014069 9.55 CACNG2 CAMK2A GRIN1 GRIN2B SYNGAP1
4 endocytic vesicle membrane GO:0030666 9.54 CACNG2 CAMK2A CAMK2B
5 NMDA selective glutamate receptor complex GO:0017146 9.4 GRIN1 GRIN2B
6 postsynaptic density membrane GO:0098839 9.13 CACNG2 GRIN1 GRIN2B
7 neuron projection GO:0043005 9.1 CACNG2 CAMK2A CAMK2B GRIN1 GRIN2B KIF1A
8 plasma membrane GO:0005886 10.17 CACNG2 CAMK2A CDH15 DOCK8 EPB41L1 GRIN1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.83 CAMK2B DEAF1 MBD5 SCN2A TCF4
2 ionotropic glutamate receptor signaling pathway GO:0035235 9.49 GRIN1 GRIN2B
3 regulation of neuronal synaptic plasticity GO:0048168 9.48 CAMK2A GRIN1
4 regulation of neuron migration GO:2001222 9.46 CAMK2A CAMK2B
5 regulation of synaptic plasticity GO:0048167 9.43 GRIN1 GRIN2B SYNGAP1
6 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.4 GRIN1 GRIN2B
7 excitatory chemical synaptic transmission GO:0098976 9.37 GRIN1 GRIN2B
8 visual learning GO:0008542 9.33 DEAF1 GRIN1 SYNGAP1
9 calcium ion transmembrane import into cytosol GO:0097553 9.32 GRIN1 GRIN2B
10 MAPK cascade GO:0000165 9.13 GRIN1 GRIN2B SYNGAP1
11 regulation of long-term neuronal synaptic plasticity GO:0048169 8.8 CAMK2B GRIN1 SYNGAP1

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

# Name GO ID Score Top Affiliating Genes
1 glycine binding GO:0016594 9.32 GRIN1 GRIN2B
2 ionotropic glutamate receptor activity GO:0004970 9.26 GRIN1 GRIN2B
3 glutamate binding GO:0016595 9.16 GRIN1 GRIN2B
4 NMDA glutamate receptor activity GO:0004972 8.96 GRIN1 GRIN2B
5 glutamate-gated calcium ion channel activity GO:0022849 8.62 GRIN1 GRIN2B

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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