MCID: ATS203
MIFTS: 31

Autosomal Dominant Non-Syndromic Intellectual Disability

Categories: Rare diseases, Neuronal diseases, Mental 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
Autosomal Dominant Mental Retardation 12 37
Autosomal Dominant Non-Syndromic Mental Retardation 12
Mental Retardation, Autosomal Dominant 6

Characteristics:

Orphanet epidemiological data:

59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

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

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 ZNF462 (Zinc Finger Protein 462), and among its related pathways/superpathways are Neuroscience and Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant 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 54)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 1 12.4
2 autosomal dominant non-syndromic intellectual disability 2 12.4
3 autosomal dominant non-syndromic intellectual disability 3 12.4
4 autosomal dominant non-syndromic intellectual disability 4 12.4
5 autosomal dominant non-syndromic intellectual disability 5 12.4
6 autosomal dominant non-syndromic intellectual disability 6 12.4
7 autosomal dominant non-syndromic intellectual disability 8 12.4
8 autosomal dominant non-syndromic intellectual disability 9 12.4
9 autosomal dominant mental retardation 55 12.0
10 autosomal dominant mental retardation 61 12.0
11 mental retardation, autosomal dominant 22 11.7
12 mental retardation, autosomal dominant 7 11.7
13 mental retardation, autosomal dominant 10 11.7
14 mental retardation, autosomal dominant 11 11.7
15 mental retardation, autosomal dominant 13 11.7
16 mental retardation, autosomal dominant 18 11.7
17 mental retardation, autosomal dominant 19 11.7
18 mental retardation, autosomal dominant 21 11.7
19 mental retardation, autosomal dominant 23 11.7
20 mental retardation, autosomal dominant 24 11.7
21 mental retardation, autosomal dominant 26 11.7
22 mental retardation, autosomal dominant 27 11.7
23 mental retardation, autosomal dominant 29 11.7
24 mental retardation, autosomal dominant 30 11.7
25 mental retardation, autosomal dominant 31 11.7
26 mental retardation, autosomal dominant 32 11.7
27 mental retardation, autosomal dominant 33 11.7
28 mental retardation, autosomal dominant 34 11.7
29 mental retardation, autosomal dominant 35 11.7
30 mental retardation, autosomal dominant 36 11.7
31 mental retardation, autosomal dominant 38 11.7
32 mental retardation, autosomal dominant 39 11.7
33 mental retardation, autosomal dominant 40 11.7
34 mental retardation, autosomal dominant 41 11.7
35 mental retardation, autosomal dominant 42 11.7
36 mental retardation, autosomal dominant 43 11.7
37 mental retardation, autosomal dominant 44 11.7
38 mental retardation, autosomal dominant 20 11.0
39 coffin-siris syndrome 2 11.0
40 coffin-siris syndrome 3 11.0
41 coffin-siris syndrome 4 11.0
42 schuurs-hoeijmakers syndrome 11.0
43 xia-gibbs syndrome 11.0
44 helsmoortel-van der aa syndrome 11.0
45 white-sutton syndrome 11.0
46 coffin-siris syndrome 1 11.0
47 paralytic lagophthalmos 10.7 DOCK8 MBD5
48 entropion 10.6 DOCK8 MBD5
49 lagophthalmos 10.5 DOCK8 MBD5
50 west syndrome 10.3 GRIN2B SCN2A STXBP1

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 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.91 ZNF462
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.91 EPB41L1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.91 CSNK2B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.91 CSNK2B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.91 GRIN2B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.91 SCN2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.91 EPB41L1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.91 SCN2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.91 EPB41L1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.91 EPB41L1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.91 GRIN2B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.91 SCN2A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.91 EPB41L1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.91 CSNK2B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.91 CSNK2B GRIN2B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.91 GRIN2B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.91 SCN2A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.91 CSNK2B GRIN2B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.91 ZNF462 EPB41L1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.91 CSNK2B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.91 ZNF462
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.91 CSNK2B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.91 ZNF462
24 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.91 SCN2A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.91 ZNF462
26 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.91 ZNF462
27 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.91 CSNK2B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.91 SCN2A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.91 GRIN2B SCN2A
30 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.91 ZNF462 EPB41L1 GRIN2B SCN2A CSNK2B
31 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.91 SCN2A

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 10.03 SYNGAP1 CSNK2B DEAF1 DYNC1H1 EEF1A2 GRIN1
2 growth/size/body region MP:0005378 9.97 CSNK2B DYNC1H1 EEF1A2 GRIN1 GRIN2B KIF1A
3 mortality/aging MP:0010768 9.83 TCF4 CSNK2B DEAF1 DYNC1H1 EEF1A2 GRIN1
4 nervous system MP:0003631 9.55 DOCK8 DYNC1H1 EEF1A2 EPB41L1 GRIN1 GRIN2B

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
[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

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 plasma membrane GO:0005886 9.77 CLTC CSNK2B DOCK8 EPB41L1 GRIN1 GRIN2B
2 postsynapse GO:0098794 9.43 KIF1A PPP3CA STXBP1
3 NMDA selective glutamate receptor complex GO:0017146 9.32 GRIN1 GRIN2B
4 clathrin coat GO:0030118 9.16 CLTC KCNQ5
5 axon GO:0030424 9.02 KIF1A KIRREL3 RAB11A SCN2A STXBP1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.76 CLTC KIF1A RAB11A STXBP1
2 microtubule-based movement GO:0007018 9.67 CLTC DYNC1H1 KIF1A
3 excitatory postsynaptic potential GO:0060079 9.61 GRIN1 GRIN2B PPP3CA
4 ionotropic glutamate receptor signaling pathway GO:0035235 9.51 GRIN1 GRIN2B
5 regulation of mitotic spindle organization GO:0060236 9.48 CLTC DYNC1H1
6 calcium-mediated signaling GO:0019722 9.43 GRIN1 GRIN2B PPP3CA
7 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.4 GRIN1 GRIN2B
8 excitatory chemical synaptic transmission GO:0098976 9.37 GRIN1 GRIN2B
9 regulation of synaptic plasticity GO:0048167 9.33 GRIN1 GRIN2B SYNGAP1
10 calcium ion transmembrane import into cytosol GO:0097553 9.32 GRIN1 GRIN2B
11 visual learning GO:0008542 9.13 DEAF1 GRIN1 SYNGAP1
12 regulation of long-term neuronal synaptic plasticity GO:0048169 8.8 GRIN1 RAB11A 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 protein binding GO:0005515 9.91 CLTC CSNK2B DEAF1 DOCK8 DYNC1H1 EEF1A2
2 ionotropic glutamate receptor activity GO:0004970 9.4 GRIN1 GRIN2B
3 extracellularly glutamate-gated ion channel activity GO:0005234 9.37 GRIN1 GRIN2B
4 glycine binding GO:0016594 9.32 GRIN1 GRIN2B
5 glutamate binding GO:0016595 9.26 GRIN1 GRIN2B
6 NMDA glutamate receptor activity GO:0004972 9.16 GRIN1 GRIN2B
7 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 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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