MRD6
MCID: ATS388
MIFTS: 32

Autosomal Dominant Non-Syndromic Intellectual Disability 6 (MRD6)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 6

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 6:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 6 12 15
Mental Retardation, Autosomal Dominant 6 29 6 70
Mental Retardation, Autosomal Dominant, Type 6 39
Autosomal Dominant Mental Retardation 6 12
Mrd6 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070036
UMLS 70 C3151411

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GRIN2B on chromosome 12p13.1.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 6, also known as mental retardation, autosomal dominant 6, is related to mental retardation, autosomal dominant 6, with or without seizures and landau-kleffner syndrome. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 6 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B), and among its related pathways/superpathways are Prion disease and Circadian entrainment.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 6:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 6

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Genetic tests related to Autosomal Dominant Non-Syndromic Intellectual Disability 6:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 6 29 GRIN2B

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 6:

(show all 14)
# Title Authors PMID Year
1
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 6
28856709 2017
2
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 6
28377535 2017
3
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 6
27572814 2016
4
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature. 6
28503605 2016
5
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. 6
27656287 2016
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
7
De novo mutations in moderate or severe intellectual disability. 6
25356899 2014
8
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 6
24272827 2014
9
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. 6
23918416 2013
10
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6
23160955 2012
11
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 6
20890276 2010
12
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 6
16537520 2006
13
Minimal residual disease undetectable by next-generation sequencing predicts improved outcome in CLL after chemoimmunotherapy. 61
31537528 2019
14
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. 61
23718928 2013

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 6

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 6:

6 (show top 50) (show all 382)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIN2B NM_000834.4(GRIN2B):c.3210T>A (p.Tyr1070Ter) SNV Pathogenic 802821 rs1591606580 GRCh37: 12:13716962-13716962
GRCh38: 12:13564028-13564028
2 GRIN2B NM_000834.4(GRIN2B):c.411+1G>A SNV Pathogenic 29728 rs1057519611 GRCh37: 12:14018731-14018731
GRCh38: 12:13865797-13865797
3 GRIN2B NM_000834.4(GRIN2B):c.801_802CA[1] (p.Thr268fs) Microsatellite Pathogenic 29729 rs1060499526 GRCh37: 12:13906457-13906458
GRCh38: 12:13753523-13753524
4 GRIN2B NM_000834.4(GRIN2B):c.2360-2A>G SNV Pathogenic 29731 rs1057519612 GRCh37: 12:13720199-13720199
GRCh38: 12:13567265-13567265
5 GRIN2B NM_000834.4(GRIN2B):c.1238A>G (p.Glu413Gly) SNV Pathogenic 143189 rs527236034 GRCh37: 12:13769479-13769479
GRCh38: 12:13616545-13616545
6 GRIN2B NM_000834.5(GRIN2B):c.1623C>G (p.Ser541Arg) SNV Pathogenic 916601 GRCh37: 12:13768079-13768079
GRCh38: 12:13615145-13615145
7 GRIN2B NM_000834.5(GRIN2B):c.1119G>A (p.Trp373Ter) SNV Pathogenic 916603 GRCh37: 12:13828685-13828685
GRCh38: 12:13675751-13675751
8 GRIN2B NM_000834.5(GRIN2B):c.2131C>T (p.Gln711Ter) SNV Pathogenic 916604 GRCh37: 12:13724778-13724778
GRCh38: 12:13571844-13571844
9 GRIN2B NM_000834.5(GRIN2B):c.3702_3705dup (p.Arg1236fs) Duplication Pathogenic 975555 GRCh37: 12:13716466-13716467
GRCh38: 12:13563532-13563533
10 GRIN2B NM_000834.4(GRIN2B):c.2430C>A (p.Ser810Arg) SNV Pathogenic 218471 rs864309560 GRCh37: 12:13720127-13720127
GRCh38: 12:13567193-13567193
11 GRIN2B NM_000834.4(GRIN2B):c.2172-2A>G SNV Pathogenic 39659 rs398122824 GRCh37: 12:13722953-13722953
GRCh38: 12:13570019-13570019
12 GRIN2B NM_000834.5(GRIN2B):c.1088del (p.Val363fs) Deletion Pathogenic 916597 GRCh37: 12:13828716-13828716
GRCh38: 12:13675782-13675782
13 GRIN2B NM_000834.5(GRIN2B):c.737C>A (p.Ser246Ter) SNV Pathogenic 916596 GRCh37: 12:13906524-13906524
GRCh38: 12:13753590-13753590
14 GRIN2B NM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter) SNV Pathogenic 916595 GRCh37: 12:13906612-13906612
GRCh38: 12:13753678-13753678
15 GRIN2B NM_000834.5(GRIN2B):c.538C>T (p.Gln180Ter) SNV Pathogenic 916594 GRCh37: 12:13906723-13906723
GRCh38: 12:13753789-13753789
16 GRIN2B NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) SNV Pathogenic 979182 GRCh37: 12:13720123-13720123
GRCh38: 12:13567189-13567189
17 GRIN2B NM_000834.4(GRIN2B):c.1345G>T (p.Glu449Ter) SNV Pathogenic 544230 rs1555112186 GRCh37: 12:13768582-13768582
GRCh38: 12:13615648-13615648
18 GRIN2B NM_000834.4(GRIN2B):c.1821G>A (p.Trp607Ter) SNV Pathogenic 574682 rs1057518700 GRCh37: 12:13761726-13761726
GRCh38: 12:13608792-13608792
19 GRIN2B NM_000834.4(GRIN2B):c.2560del (p.Cys854fs) Deletion Pathogenic 619997 GRCh37: 12:13719997-13719997
GRCh38: 12:13567063-13567063
20 overlap with 10 genes NC_000012.12:g.(?_12717002)_(13982130_?)del Deletion Pathogenic 831584 GRCh37: 12:12869936-14135064
GRCh38:
21 GRIN2B NM_000834.4(GRIN2B):c.1966C>T (p.Gln656Ter) SNV Pathogenic 431127 rs1135401799 GRCh37: 12:13761581-13761581
GRCh38: 12:13608647-13608647
22 GRIN2B NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) SNV Pathogenic 374243 rs1057519004 GRCh37: 12:13764767-13764767
GRCh38: 12:13611833-13611833
23 GRIN2B NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) SNV Pathogenic 981287 GRCh37: 12:13768146-13768146
GRCh38: 12:13615212-13615212
24 GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) Deletion Pathogenic 916029 GRCh37: 12:13768481-13768488
GRCh38: 12:13615547-13615554
25 GRIN2B NM_000834.4(GRIN2B):c.99dup (p.Ser34fs) Duplication Pathogenic 430527 rs398122823 GRCh37: 12:14019043-14019044
GRCh38: 12:13866109-13866110
26 GRIN2B NM_000834.4(GRIN2B):c.1677G>A (p.Trp559Ter) SNV Pathogenic 39660 rs398122825 GRCh37: 12:13764762-13764762
GRCh38: 12:13611828-13611828
27 GRIN2B NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) SNV Pathogenic 208643 rs797044849 GRCh37: 12:13720098-13720098
GRCh38: 12:13567164-13567164
28 GRIN2B NM_000834.4(GRIN2B):c.3332G>A (p.Arg1111His) SNV Pathogenic 234696 rs876661167 GRCh37: 12:13716840-13716840
GRCh38: 12:13563906-13563906
29 GRIN2B NM_000834.4(GRIN2B):c.1555C>T (p.Arg519Ter) SNV Pathogenic 391757 rs774592932 GRCh37: 12:13768147-13768147
GRCh38: 12:13615213-13615213
30 GRIN2B NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) SNV Pathogenic 245756 rs879253931 GRCh37: 12:13720018-13720018
GRCh38: 12:13567084-13567084
31 GRIN2B NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) SNV Pathogenic 245756 rs879253931 GRCh37: 12:13720018-13720018
GRCh38: 12:13567084-13567084
32 GRIN2B NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) SNV Pathogenic/Likely pathogenic 234500 rs876661055 GRCh37: 12:13722871-13722871
GRCh38: 12:13569937-13569937
33 GRIN2B NM_000834.4(GRIN2B):c.2044C>T (p.Arg682Cys) SNV Pathogenic/Likely pathogenic 29730 rs387906636 GRCh37: 12:13724865-13724865
GRCh38: 12:13571931-13571931
34 GRIN2B NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His) SNV Likely pathogenic 162087 rs672601378 GRCh37: 12:13768083-13768083
GRCh38: 12:13615149-13615149
35 GRIN2B NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val) SNV Likely pathogenic 988725 GRCh37: 12:13906366-13906366
GRCh38: 12:13753432-13753432
36 GRIN2B NM_000834.4(GRIN2B):c.2081A>G (p.Asn694Ser) SNV Likely pathogenic 802823 rs1591612317 GRCh37: 12:13724828-13724828
GRCh38: 12:13571894-13571894
37 GRIN2B NM_000834.4(GRIN2B):c.2060C>T (p.Pro687Leu) SNV Likely pathogenic 205711 GRCh37: 12:13724849-13724849
GRCh38: 12:13571915-13571915
38 GRIN2B NM_000834.4(GRIN2B):c.2459G>A (p.Gly820Glu) SNV Likely pathogenic 580700 rs797044849 GRCh37: 12:13720098-13720098
GRCh38: 12:13567164-13567164
39 GRIN2B NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) SNV Likely pathogenic 916602 GRCh37: 12:13764775-13764775
GRCh38: 12:13611841-13611841
40 GRIN2B NM_000834.4(GRIN2B):c.1832G>T (p.Gly611Val) SNV Likely pathogenic 205730 GRCh37: 12:13761715-13761715
GRCh38: 12:13608781-13608781
41 GRIN2B NM_000834.4(GRIN2B):c.2429G>A (p.Ser810Asn) SNV Likely pathogenic 800894 rs1591609136 GRCh37: 12:13720128-13720128
GRCh38: 12:13567194-13567194
42 GRIN2B NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) SNV Likely pathogenic 916592 GRCh37: 12:13720102-13720102
GRCh38: 12:13567168-13567168
43 GRIN2B NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter) SNV Likely pathogenic 956942 GRCh37: 12:13717417-13717417
GRCh38: 12:13564483-13564483
44 GRIN2B NM_000834.4(GRIN2B):c.1844A>T (p.Asn615Ile) SNV Likely pathogenic 162086 rs672601377 GRCh37: 12:13761703-13761703
GRCh38: 12:13608769-13608769
45 GRIN2B NM_000834.4(GRIN2B):c.1853T>G (p.Val618Gly) SNV Likely pathogenic 162085 rs672601376 GRCh37: 12:13761694-13761694
GRCh38: 12:13608760-13608760
46 GRIN2B NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser) SNV Likely pathogenic 843669 GRCh37: 12:13761700-13761700
GRCh38: 12:13608766-13608766
47 GRIN2B NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) SNV Likely pathogenic 928560 GRCh37: 12:13764764-13764764
GRCh38: 12:13611830-13611830
48 GRIN2B NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) SNV Likely pathogenic 928560 GRCh37: 12:13764764-13764764
GRCh38: 12:13611830-13611830
49 GRIN2B NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) SNV Likely pathogenic 205710 rs796052571 GRCh37: 12:13761689-13761689
GRCh38: 12:13608755-13608755
50 GRIN2B NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter) SNV Likely pathogenic 993010 GRCh37: 12:13769430-13769430
GRCh38: 12:13616496-13616496

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 6.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 6 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 GRIN2D GRIN2B GRIN1
2
Show member pathways
12.41 GRIN2D GRIN2B GRIN1
3
Show member pathways
12.31 GRIN2D GRIN2B GRIN1
4 12.07 GRIN2D GRIN2B GRIN1
5 12.03 GRIN2D GRIN2B GRIN1
6
Show member pathways
11.94 GRIN2D GRIN2B GRIN1
7 11.84 GRIN2D GRIN2B GRIN1
8 11.81 GRIN2D GRIN2B GRIN1
9
Show member pathways
11.75 GRIN2D GRIN2B GRIN1
10
Show member pathways
11.68 GRIN2D GRIN2B GRIN1
11
Show member pathways
11.62 GRIN2D GRIN2B GRIN1
12
Show member pathways
11.5 GRIN2D GRIN2B GRIN1
13 11.37 GRIN2D GRIN2B GRIN1
14 11.03 GRIN2D GRIN2B GRIN1
15 10.79 GRIN2D GRIN2B GRIN1
16 10.53 GRIN2D GRIN2B GRIN1
17 10.12 GRIN2D GRIN2B GRIN1

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 6

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.67 GRIN2D GRIN2B GRIN1 FAM234B
2 synapse GO:0045202 9.56 GRIN2D GRIN2B GRIN1 FAM234B
3 postsynaptic density membrane GO:0098839 9.32 GRIN2D GRIN2B
4 synaptic membrane GO:0097060 9.16 GRIN2B GRIN1
5 postsynaptic membrane GO:0045211 9.13 GRIN2D GRIN2B GRIN1
6 NMDA selective glutamate receptor complex GO:0017146 8.8 GRIN2D GRIN2B GRIN1

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 6 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.65 GRIN2D GRIN2B GRIN1
2 calcium-mediated signaling GO:0019722 9.54 GRIN2D GRIN2B GRIN1
3 ephrin receptor signaling pathway GO:0048013 9.51 GRIN2B GRIN1
4 excitatory postsynaptic potential GO:0060079 9.5 GRIN2D GRIN2B GRIN1
5 long-term synaptic potentiation GO:0060291 9.49 GRIN2D GRIN2B
6 regulation of NMDA receptor activity GO:2000310 9.46 GRIN2B GRIN1
7 protein heterotetramerization GO:0051290 9.43 GRIN2B GRIN1
8 regulation of synaptic plasticity GO:0048167 9.43 GRIN2D GRIN2B GRIN1
9 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.4 GRIN2B GRIN1
10 ionotropic glutamate receptor signaling pathway GO:0035235 9.33 GRIN2D GRIN2B GRIN1
11 excitatory chemical synaptic transmission GO:0098976 9.13 GRIN2D GRIN2B GRIN1
12 calcium ion transmembrane import into cytosol GO:0097553 8.8 GRIN2D GRIN2B GRIN1

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.61 GRIN2D GRIN2B GRIN1
2 ion channel activity GO:0005216 9.58 GRIN2D GRIN2B GRIN1
3 amyloid-beta binding GO:0001540 9.46 GRIN2B GRIN1
4 ligand-gated ion channel activity GO:0015276 9.43 GRIN2D GRIN2B GRIN1
5 glycine binding GO:0016594 9.37 GRIN2B GRIN1
6 ionotropic glutamate receptor activity GO:0004970 9.33 GRIN2D GRIN2B GRIN1
7 glutamate binding GO:0016595 9.32 GRIN2B GRIN1
8 NMDA glutamate receptor activity GO:0004972 9.13 GRIN2D GRIN2B GRIN1
9 glutamate-gated calcium ion channel activity GO:0022849 8.8 GRIN2D GRIN2B GRIN1

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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