MRD6
MCID: MNT320
MIFTS: 26

Mental Retardation, Autosomal Dominant 6, with or Without Seizures (MRD6)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6, with or Without...

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

Name: Mental Retardation, Autosomal Dominant 6, with or Without Seizures 57 72 6
Mrd6 57 72
Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures 57
Mental Retardation, Autosomal Dominant 6 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable severity


HPO:

31
mental retardation, autosomal dominant 6, with or without seizures:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 6, with or Without...

OMIM® : 57 MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017). (613970) (Updated 20-May-2021)

MalaCards based summary : Mental Retardation, Autosomal Dominant 6, with or Without Seizures, also known as mrd6, is related to autosomal dominant non-syndromic intellectual disability 6. An important gene associated with Mental Retardation, Autosomal Dominant 6, with or Without Seizures is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). Related phenotypes are microcephaly and seizure

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 6, with or without seizures: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features.

Related Diseases for Mental Retardation, Autosomal Dominant 6, with or Without...

Diseases related to Mental Retardation, Autosomal Dominant 6, with or Without Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 6 11.0

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 6, with or Without...

Human phenotypes related to Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 eeg abnormality 31 HP:0002353
6 chorea 31 HP:0002072
7 global developmental delay 31 HP:0001263
8 behavioral abnormality 31 HP:0000708
9 dyskinesia 31 HP:0100660
10 dystonia 31 HP:0001332
11 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
spasticity
dystonia
seizures (in some patients)
delayed psychomotor development
more
Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM®:

613970 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6, with or Without...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 6, with or Without Seizures

Genetic Tests for Mental Retardation, Autosomal Dominant 6, with or Without...

Anatomical Context for Mental Retardation, Autosomal Dominant 6, with or Without...

Publications for Mental Retardation, Autosomal Dominant 6, with or Without...

Articles related to Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

(show all 16)
# Title Authors PMID Year
1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 57 6
28377535 2017
2
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 57 6
24272827 2014
3
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6 57
23160955 2012
4
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 6 57
20890276 2010
5
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 6
28856709 2017
6
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 6
27572814 2016
7
Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature. 6
28503605 2016
8
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. 6
27656287 2016
9
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
10
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 57
24863970 2014
11
De novo mutations in moderate or severe intellectual disability. 6
25356899 2014
12
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability. 6
23918416 2013
13
De novo mutations in epileptic encephalopathies. 57
23934111 2013
14
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 6
16537520 2006
15
Minimal residual disease undetectable by next-generation sequencing predicts improved outcome in CLL after chemoimmunotherapy. 61
31537528 2019
16
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. 61
23718928 2013

Variations for Mental Retardation, Autosomal Dominant 6, with or Without...

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

6 (show top 50) (show all 397)
# 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.538C>T (p.Gln180Ter) SNV Pathogenic 916594 GRCh37: 12:13906723-13906723
GRCh38: 12:13753789-13753789
7 GRIN2B NM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter) SNV Pathogenic 916595 GRCh37: 12:13906612-13906612
GRCh38: 12:13753678-13753678
8 GRIN2B NM_000834.5(GRIN2B):c.737C>A (p.Ser246Ter) SNV Pathogenic 916596 GRCh37: 12:13906524-13906524
GRCh38: 12:13753590-13753590
9 GRIN2B NM_000834.5(GRIN2B):c.1088del (p.Val363fs) Deletion Pathogenic 916597 GRCh37: 12:13828716-13828716
GRCh38: 12:13675782-13675782
10 GRIN2B NM_000834.5(GRIN2B):c.1623C>G (p.Ser541Arg) SNV Pathogenic 916601 GRCh37: 12:13768079-13768079
GRCh38: 12:13615145-13615145
11 GRIN2B NM_000834.5(GRIN2B):c.1119G>A (p.Trp373Ter) SNV Pathogenic 916603 GRCh37: 12:13828685-13828685
GRCh38: 12:13675751-13675751
12 GRIN2B NM_000834.5(GRIN2B):c.2131C>T (p.Gln711Ter) SNV Pathogenic 916604 GRCh37: 12:13724778-13724778
GRCh38: 12:13571844-13571844
13 GRIN2B NM_000834.5(GRIN2B):c.3702_3705dup (p.Arg1236fs) Duplication Pathogenic 975555 GRCh37: 12:13716466-13716467
GRCh38: 12:13563532-13563533
14 GRIN2B NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) SNV Pathogenic 979182 GRCh37: 12:13720123-13720123
GRCh38: 12:13567189-13567189
15 GRIN2B NM_000834.4(GRIN2B):c.2430C>A (p.Ser810Arg) SNV Pathogenic 218471 rs864309560 GRCh37: 12:13720127-13720127
GRCh38: 12:13567193-13567193
16 GRIN2B NM_000834.4(GRIN2B):c.2172-2A>G SNV Pathogenic 39659 rs398122824 GRCh37: 12:13722953-13722953
GRCh38: 12:13570019-13570019
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.1677G>A (p.Trp559Ter) SNV Pathogenic 39660 rs398122825 GRCh37: 12:13764762-13764762
GRCh38: 12:13611828-13611828
23 GRIN2B NM_000834.4(GRIN2B):c.3332G>A (p.Arg1111His) SNV Pathogenic 234696 rs876661167 GRCh37: 12:13716840-13716840
GRCh38: 12:13563906-13563906
24 GRIN2B NM_000834.4(GRIN2B):c.99dup (p.Ser34fs) Duplication Pathogenic 430527 rs398122823 GRCh37: 12:14019043-14019044
GRCh38: 12:13866109-13866110
25 GRIN2B NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) SNV Pathogenic 208643 rs797044849 GRCh37: 12:13720098-13720098
GRCh38: 12:13567164-13567164
26 GRIN2B NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) SNV Pathogenic 374243 rs1057519004 GRCh37: 12:13764767-13764767
GRCh38: 12:13611833-13611833
27 GRIN2B NM_000834.4(GRIN2B):c.2539C>T (p.Arg847Ter) SNV Pathogenic 245756 rs879253931 GRCh37: 12:13720018-13720018
GRCh38: 12:13567084-13567084
28 GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) Deletion Pathogenic 916029 GRCh37: 12:13768481-13768488
GRCh38: 12:13615547-13615554
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_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln) SNV Pathogenic 981287 GRCh37: 12:13768146-13768146
GRCh38: 12:13615212-13615212
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.2044C>T (p.Arg682Cys) SNV Pathogenic/Likely pathogenic 29730 rs387906636 GRCh37: 12:13724865-13724865
GRCh38: 12:13571931-13571931
33 GRIN2B NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) SNV Pathogenic/Likely pathogenic 234500 rs876661055 GRCh37: 12:13722871-13722871
GRCh38: 12:13569937-13569937
34 GRIN2B NM_000834.4(GRIN2B):c.2060C>T (p.Pro687Leu) SNV Likely pathogenic 205711 GRCh37: 12:13724849-13724849
GRCh38: 12:13571915-13571915
35 GRIN2B NM_000834.4(GRIN2B):c.2459G>A (p.Gly820Glu) SNV Likely pathogenic 580700 rs797044849 GRCh37: 12:13720098-13720098
GRCh38: 12:13567164-13567164
36 GRIN2B NM_000834.4(GRIN2B):c.2477G>A (p.Gly826Glu) SNV Likely pathogenic 421209 rs1064794979 GRCh37: 12:13720080-13720080
GRCh38: 12:13567146-13567146
37 GRIN2B NM_000834.4(GRIN2B):c.1547A>G (p.Asn516Ser) SNV Likely pathogenic 279975 rs886041295 GRCh37: 12:13768155-13768155
GRCh38: 12:13615221-13615221
38 GRIN2B NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile) SNV Likely pathogenic 916602 GRCh37: 12:13764775-13764775
GRCh38: 12:13611841-13611841
39 GRIN2B NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) SNV Likely pathogenic 205710 rs796052571 GRCh37: 12:13761689-13761689
GRCh38: 12:13608755-13608755
40 GRIN2B NM_000834.5(GRIN2B):c.2087G>A SNV Likely pathogenic 489393 rs1555103971 GRCh37: 12:13724822-13724822
GRCh38: 12:13571888-13571888
41 GRIN2B NM_000834.4(GRIN2B):c.1619G>A (p.Arg540His) SNV Likely pathogenic 162087 rs672601378 GRCh37: 12:13768083-13768083
GRCh38: 12:13615149-13615149
42 GRIN2B NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) SNV Likely pathogenic 224818 GRCh37: 12:13724844-13724844
GRCh38: 12:13571910-13571910
43 GRIN2B NM_000834.4(GRIN2B):c.1658C>T (p.Pro553Leu) SNV Likely pathogenic 39661 rs397514556 GRCh37: 12:13764781-13764781
GRCh38: 12:13611847-13611847
44 GRIN2B NM_000834.4(GRIN2B):c.2459G>C (p.Gly820Ala) SNV Likely pathogenic 208643 rs797044849 GRCh37: 12:13720098-13720098
GRCh38: 12:13567164-13567164
45 GRIN2B NM_000834.4(GRIN2B):c.2081A>G (p.Asn694Ser) SNV Likely pathogenic 802823 rs1591612317 GRCh37: 12:13724828-13724828
GRCh38: 12:13571894-13571894
46 GRIN2B NM_000834.4(GRIN2B):c.1832G>T (p.Gly611Val) SNV Likely pathogenic 205730 GRCh37: 12:13761715-13761715
GRCh38: 12:13608781-13608781
47 GRIN2B NM_000834.4(GRIN2B):c.1858G>A (p.Val620Met) SNV Likely pathogenic 205710 rs796052571 GRCh37: 12:13761689-13761689
GRCh38: 12:13608755-13608755
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_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) SNV Likely pathogenic 928560 GRCh37: 12:13764764-13764764
GRCh38: 12:13611830-13611830
50 GRIN2B NM_000834.4(GRIN2B):c.1844A>T (p.Asn615Ile) SNV Likely pathogenic 162086 rs672601377 GRCh37: 12:13761703-13761703
GRCh38: 12:13608769-13608769

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

72
# Symbol AA change Variation ID SNP ID
1 GRIN2B p.Arg682Cys VAR_065900 rs387906636
2 GRIN2B p.Pro553Leu VAR_069384 rs397514556
3 GRIN2B p.Cys456Tyr VAR_076764 rs397514555
4 GRIN2B p.Gly820Glu VAR_078647 rs797044849
5 GRIN2B p.Glu413Gly VAR_079947 rs527236034
6 GRIN2B p.Cys436Arg VAR_079948 rs156547815
7 GRIN2B p.Cys461Phe VAR_079949
8 GRIN2B p.Arg696His VAR_079950 rs155510397

Expression for Mental Retardation, Autosomal Dominant 6, with or Without...

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 6, with or Without Seizures.

Pathways for Mental Retardation, Autosomal Dominant 6, with or Without...

GO Terms for Mental Retardation, Autosomal Dominant 6, with or Without...

Sources for Mental Retardation, Autosomal Dominant 6, with or Without...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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