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 53 59 15
Mental Retardation, Autosomal Dominant 6 40
Autosomal Dominant Mental Retardation 12 37
Autosomal Dominant Non-Syndromic Mental Retardation 12

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060307
KEGG 37 H00773
Orphanet 59 ORPHA178469

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

KEGG : 37
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 alacrima, achalasia, and mental retardation syndrome and autosomal dominant non-syndromic intellectual disability 1. 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

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

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 30.3 GRIN1 EEF1A2 CAMK2B CAMK2A
2 autosomal dominant non-syndromic intellectual disability 1 12.8
3 autosomal dominant non-syndromic intellectual disability 2 12.8
4 autosomal dominant non-syndromic intellectual disability 3 12.8
5 autosomal dominant non-syndromic intellectual disability 4 12.8
6 autosomal dominant non-syndromic intellectual disability 5 12.8
7 autosomal dominant non-syndromic intellectual disability 6 12.8
8 autosomal dominant non-syndromic intellectual disability 9 12.8
9 autosomal dominant non-syndromic intellectual disability 8 12.7
10 autosomal dominant non-syndromic intellectual disability 19 12.7
11 autosomal dominant non-syndromic intellectual disability 27 12.7
12 mental retardation, autosomal dominant 6, with or without seizures 12.7
13 mental retardation, autosomal dominant 55, with seizures 12.6
14 mental retardation, autosomal dominant 57 12.6
15 mental retardation, autosomal dominant 58 12.6
16 autosomal dominant mental retardation 55 12.3
17 mental retardation, autosomal dominant 7 12.1
18 mental retardation, autosomal dominant 10 12.1
19 mental retardation, autosomal dominant 11 12.1
20 mental retardation, autosomal dominant 13 12.1
21 mental retardation, autosomal dominant 21 12.1
22 mental retardation, autosomal dominant 24 12.1
23 mental retardation, autosomal dominant 32 12.1
24 mental retardation, autosomal dominant 35 12.1
25 mental retardation, autosomal dominant 38 12.1
26 mental retardation, autosomal dominant 41 12.1
27 mental retardation, autosomal dominant 43 12.1
28 coffin-siris syndrome 9 12.1
29 mental retardation, autosomal dominant 22 12.0
30 mental retardation, autosomal dominant 18 12.0
31 mental retardation, autosomal dominant 23 12.0
32 mental retardation, autosomal dominant 26 12.0
33 mental retardation, autosomal dominant 29 12.0
34 mental retardation, autosomal dominant 30 12.0
35 mental retardation, autosomal dominant 31 12.0
36 mental retardation, autosomal dominant 33 12.0
37 mental retardation, autosomal dominant 34 12.0
38 mental retardation, autosomal dominant 36 12.0
39 mental retardation, autosomal dominant 39 12.0
40 mental retardation, autosomal dominant 40 12.0
41 mental retardation, autosomal dominant 42 12.0
42 mental retardation, autosomal dominant 44 12.0
43 neurodevelopmental disorder with spastic diplegia and visual defects 11.7
44 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.7
45 adnp syndrome 11.5
46 coffin-siris syndrome 1 11.3
47 mental retardation, autosomal dominant 20 11.3
48 schuurs-hoeijmakers syndrome 11.3
49 xia-gibbs syndrome 11.3
50 helsmoortel-van der aa syndrome 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CACNG2 CAMK2A CAMK2B CDH15 CHAMP1 CIC

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 CACNG2 CAMK2A CAMK2B CIC CSNK2B DEAF1
2 growth/size/body region MP:0005378 9.93 CACNG2 CAMK2A CAMK2B CIC CSNK2B DYNC1H1
3 mortality/aging MP:0010768 9.77 CACNG2 CAMK2A CIC CSNK2B DEAF1 DYNC1H1
4 nervous system MP:0003631 9.53 CACNG2 CAMK2A CAMK2B CIC CSNK2B DEAF1

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 PMID Year
1
GATAD2B-related intellectual disability due to parental mosaicism and review of literature. 38
31205050 2019
2
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 38
30796847 2019
3
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. 38
30858058 2019
4
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. 38
29700199 2018

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A): c.3697G> T (p.Glu1233Ter) single nucleotide variant Pathogenic rs1057519617 2:166226657-166226657 2:165370147-165370147
2 ZNF462 NM_021224.6(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 9:109689980-109689980 9:106927699-106927699
3 ZNF462 NM_021224.6(ZNF462): c.4263del (p.Glu1422fs) deletion Pathogenic rs1060499551 9:109690456-109690456 9:106928175-106928175
4 ZNF462 NM_021224.6(ZNF462): c.2979_2980delinsA (p.Val994fs) indel Pathogenic rs1060499550 9:109689172-109689173 9:106926891-106926892
5 SMARCA2 NM_003070.5(SMARCA2): c.2329C> G (p.Leu777Val) single nucleotide variant Uncertain significance rs771591197 9:2081976-2081976 9:2081976-2081976
6 KAT6B NM_012330.4(KAT6B): c.3544G> A (p.Glu1182Lys) single nucleotide variant Likely benign rs1057519623 10:76784887-76784887 10:75025129-75025129
7 NAA10 NM_003491.4(NAA10): c.583C> T (p.Arg195Cys) single nucleotide variant Likely benign 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:

37
# Name Kegg Source Accession
1 Dopaminergic synapse hsa04728
2 Adrenergic signaling in cardiomyocytes hsa04261
3 cAMP signaling pathway hsa04024

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 cytoskeleton GO:0005856 9.87 STXBP1 KIF1A EPB41L1 DYNC1H1 CLTC CHAMP1
2 synapse GO:0045202 9.8 GRIN1 EEF1A2 CAMK2B CAMK2A CACNG2
3 cytosol GO:0005829 9.77 SYNGAP1 STXBP1 KIF1A EPB41L1 DYNC1H1 DOCK8
4 postsynaptic density GO:0014069 9.67 SYNGAP1 GRIN1 CAMK2A CACNG2
5 neuron projection GO:0043005 9.55 KIF1A GRIN1 CAMK2B CAMK2A CACNG2
6 postsynaptic density membrane GO:0098839 9.46 GRIN1 CACNG2
7 endocytic vesicle membrane GO:0030666 9.43 CAMK2B CAMK2A CACNG2
8 glutamatergic synapse GO:0098978 9.02 SYNGAP1 STXBP1 SCN2A GRIN1 CACNG2
9 plasma membrane GO:0005886 10.17 SYNGAP1 STXBP1 SCN2A GRIN1 EPB41L1 DOCK8

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

# Name GO ID Score Top Affiliating Genes
1 regulation of neuronal synaptic plasticity GO:0048168 9.37 GRIN1 CAMK2A
2 regulation of mitotic spindle organization GO:0060236 9.32 DYNC1H1 CLTC
3 regulation of neuron migration GO:2001222 9.26 CAMK2B CAMK2A
4 MAPK cascade GO:0000165 9.16 SYNGAP1 GRIN1
5 visual learning GO:0008542 9.13 SYNGAP1 GRIN1 DEAF1
6 regulation of long-term neuronal synaptic plasticity GO:0048169 8.8 SYNGAP1 GRIN1 CAMK2B

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 9.53 ZNF462 STXBP1 GRIN1 EPB41L1 EEF1A2 DYNC1H1
2 identical protein binding GO:0042802 9.35 STXBP1 KIF1A CSNK2B CAMK2B CAMK2A
3 calmodulin-dependent protein kinase activity GO:0004683 9.16 CAMK2B CAMK2A

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....