MCID: ATS203
MIFTS: 34

Autosomal Dominant Non-Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards based summary: Autosomal Dominant Non-Syndromic Intellectual Disability is related to intellectual developmental disorder, autosomal dominant 35 and intellectual developmental disorder, autosomal dominant 1. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is CIC (Capicua Transcriptional Repressor), and among its related pathways/superpathways are CREB Pathway and Golgi-to-ER retrograde transport. Related phenotypes are spasticity and intellectual disability, severe

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 intellectual developmental disorder, autosomal dominant 35 32.7 DYNC1H1 CHAMP1
2 intellectual developmental disorder, autosomal dominant 1 11.6
3 intellectual developmental disorder, autosomal dominant 22 11.6
4 intellectual developmental disorder, autosomal dominant 3 11.6
5 intellectual developmental disorder, autosomal dominant 4 11.6
6 intellectual developmental disorder, autosomal dominant 5 11.6
7 intellectual developmental disorder, autosomal dominant 7 11.6
8 intellectual developmental disorder, autosomal dominant 2 11.6
9 intellectual developmental disorder, autosomal dominant 10 11.6
10 chromosome 20q11-q12 deletion syndrome 11.6
11 intellectual developmental disorder, autosomal dominant 13 11.6
12 gand syndrome 11.6
13 intellectual developmental disorder, autosomal dominant 21 11.6
14 intellectual developmental disorder, autosomal dominant 23 11.6
15 intellectual developmental disorder, autosomal dominant 29 11.6
16 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 11.6
17 intellectual developmental disorder, autosomal dominant 33 11.6
18 intellectual developmental disorder, autosomal dominant 36 11.6
19 intellectual developmental disorder, autosomal dominant 38 11.6
20 intellectual developmental disorder, autosomal dominant 41 11.6
21 intellectual developmental disorder, autosomal dominant 42 11.6
22 intellectual developmental disorder, autosomal dominant 43 11.6
23 intellectual developmental disorder, autosomal dominant 44, with microcephaly 11.6
24 autosomal dominant intellectual developmental disorder 6 11.6
25 autosomal dominant intellectual developmental disorder 8 11.6
26 autosomal dominant intellectual developmental disorder 19 11.6
27 autosomal dominant intellectual developmental disorder 31 11.6
28 autosomal dominant intellectual developmental disorder 40 11.6
29 nescav syndrome 11.4
30 vulto-van silfhout-de vries syndrome 11.4
31 intellectual developmental disorder, autosomal dominant 26 11.4
32 coffin-siris syndrome 9 11.4
33 arboleda-tham syndrome 11.4
34 intellectual developmental disorder, autosomal dominant 34 11.4
35 intellectual developmental disorder, autosomal dominant 39 11.4
36 autosomal dominant intellectual developmental disorder 11.4
37 anterior segment dysgenesis 5 10.2 TRPM3 CAMK2B
38 autism 10.1 GRIN2B DOCK8 DLL1 CAMK2B CAMK2A ASH1L
39 autism spectrum disorder 10.0 GRIN2B DYNC1H1 DLL1 DEAF1 CAMK2B ASH1L
40 congenital nervous system abnormality 10.0 GRIN2B DYNC1H1 CUX1 CHAMP1 CAMK2B
41 childhood absence epilepsy 10.0 GRIN2B CACNG2 CACNA1I
42 microcephaly 10.0 GRIN2B EEF1A2 DYNC1H1 DEAF1 CLTC CAMK2B

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

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 30 Frequent (33%) HP:0001257
2 intellectual disability, severe 30 Frequent (33%) HP:0010864
3 cerebral visual impairment 30 Frequent (33%) HP:0100704
4 poor speech 30 Frequent (33%) HP:0002465
5 motor stereotypy 30 Frequent (33%) HP:0000733
6 sleep disturbance 30 Occasional (7.5%) HP:0002360
7 scoliosis 30 Occasional (7.5%) HP:0002650
8 chorea 30 Occasional (7.5%) HP:0002072
9 self-injurious behavior 30 Occasional (7.5%) HP:0100716
10 abnormal facial shape 30 Occasional (7.5%) HP:0001999
11 dyskinesia 30 Occasional (7.5%) HP:0100660
12 microcephaly 30 Occasional (7.5%) HP:0000252
13 short stature 30 Occasional (7.5%) HP:0004322
14 gastroesophageal reflux 30 Occasional (7.5%) HP:0002020
15 intellectual disability, mild 30 Occasional (7.5%) HP:0001256
16 intellectual disability, moderate 30 Occasional (7.5%) HP:0002342
17 severe muscular hypotonia 30 Occasional (7.5%) HP:0006829
18 leukoencephalopathy 30 Occasional (7.5%) HP:0002352
19 bilateral tonic-clonic seizure 30 Occasional (7.5%) HP:0002069
20 status epilepticus 30 Occasional (7.5%) HP:0002133
21 intellectual disability, profound 30 Occasional (7.5%) HP:0002187
22 cerebral atrophy 30 Occasional (7.5%) HP:0002059
23 autistic behavior 30 Occasional (7.5%) HP:0000729
24 gastrostomy tube feeding in infancy 30 Occasional (7.5%) HP:0011471
25 hypoplasia of the corpus callosum 30 Occasional (7.5%) HP:0002079
26 oral-pharyngeal dysphagia 30 Occasional (7.5%) HP:0200136
27 focal motor seizure 30 Occasional (7.5%) HP:0011153
28 focal impaired awareness seizure 30 Occasional (7.5%) HP:0002384
29 abnormal hippocampus morphology 30 Occasional (7.5%) HP:0025100
30 widened subarachnoid space 30 Occasional (7.5%) HP:0012704
31 epileptic spasm 30 Occasional (7.5%) HP:0011097
32 oculogyric crisis 30 Occasional (7.5%) HP:0010553
33 atonic seizure 30 Occasional (7.5%) HP:0010819
34 typical absence seizure 30 Occasional (7.5%) HP:0011147
35 eyelid myoclonus 30 Occasional (7.5%) HP:0025097
36 generalized tonic seizure 30 Occasional (7.5%) HP:0010818
37 lateral ventricle dilatation 30 Occasional (7.5%) HP:0006956
38 generalized myoclonic seizure 30 Occasional (7.5%) HP:0002123
39 focal emotional seizure with laughing 30 Occasional (7.5%) HP:0010821
40 bilateral generalized polymicrogyria 30 Occasional (7.5%) HP:0032410

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 ARF3 ASH1L BRSK2 CACNA1I CACNG2 CAMK2A
2 no effect GR00402-S-2 10.2 ASH1L BRSK2 CACNA1I CACNG2 CAMK2A CAMK2B

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.13 BRSK2 CACNA1I CACNG2 CAMK2A CAMK2B CIC
2 growth/size/body region MP:0005378 9.97 ASH1L CACNA1I CACNG2 CAMK2A CAMK2B CIC
3 behavior/neurological MP:0005386 9.8 ASH1L BRSK2 CACNG2 CAMK2A CAMK2B CIC
4 mortality/aging MP:0010768 9.47 ASH1L BRSK2 CACNG2 CAMK2A CAMK2B CIC

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 28

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIC NM_001386298.1(CIC):c.3059dup (p.His1021fs) DUP Pathogenic
1708217 GRCh37: 19:42791267-42791268
GRCh38: 19:42287115-42287116
2 TRPM3 NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) SNV Pathogenic
585073 rs1564493599 GRCh37: 9:73213379-73213379
GRCh38: 9:70598463-70598463
3 GRIN2B NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) SNV Pathogenic
984851 rs1555112396 GRCh37: 12:13769540-13769540
GRCh38: 12:13616606-13616606
4 CLTC NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer) DEL Pathogenic
1283912 GRCh37: 17:57754399-57754402
GRCh38: 17:59677038-59677041
5 JARID2 NM_004973.4(JARID2):c.12_13del (p.Arg5fs) DEL Likely Pathogenic
1339774 GRCh37: 6:15246781-15246782
GRCh38: 6:15246550-15246551
6 CSNK2B NM_001320.7(CSNK2B):c.72+2T>G SNV Likely Pathogenic
1526270 GRCh37: 6:31634682-31634682
GRCh38: 6:31666905-31666905

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 GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 TRPM3 GRIN2B CAMK2B CAMK2A CACNG2 CACNA1I
2
Show member pathways
12.85 DYNC1H1 DOCK8 CUX1 CLTC ARF3
3
Show member pathways
12.83 CAMK2B CAMK2A CACNG2 CACNA1I BRSK2
4
Show member pathways
12.43 GRIN2B CAMK2B CAMK2A ARF3
5
Show member pathways
12.02 GRIN2B DLL1 CAMK2B CAMK2A
6
Show member pathways
11.95 CAMK2B CAMK2A CACNG2 CACNA1I
7 11.89 GRIN2B CAMK2B CAMK2A CACNG2 BRSK2
8 11.85 CDH15 CACNG2 CACNA1I
9 11.82 GRIN2B CAMK2B CAMK2A
10 11.65 DLL1 CSNK2B CLTC
11
Show member pathways
11.58 CAMK2A CAMK2B GRIN2B
12
Show member pathways
11.53 CAMK2B CAMK2A CACNG2
13 11.45 GRIN2B CAMK2B CAMK2A
14
Show member pathways
11.19 GRIN2B CAMK2B CAMK2A
15
Show member pathways
11.02 GRIN2B CLTC CAMK2B CAMK2A
16 10.98 GRIN2B CAMK2B CAMK2A

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 endocytic vesicle membrane GO:0030666 9.63 CAMK2B CAMK2A CACNG2
2 organelle GO:0043226 8.96 CAMK2B CAMK2A
3 calcium- and calmodulin-dependent protein kinase complex GO:0005954 8.92 CAMK2B CAMK2A

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.02 TRPM3 CAMK2A CACNG2 CACNA1I

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.92 TRPM3 CACNG2 CACNA1I

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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