MRD6
MCID: MNT320
MIFTS: 20

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 58 76
Mental Retardation, Autosomal Dominant 6 58 30 13 6 74
Mrd6 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
highly variable severity


HPO:

33
mental retardation, autosomal dominant 6, with or without seizures:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Mental Retardation, Autosomal Dominant 6, with or Without Seizures, also known as mental retardation, autosomal dominant 6, 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). Affiliated tissues include brain, and related phenotypes are seizures and intellectual disability

UniProtKB/Swiss-Prot : 76 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 11.1

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 intellectual disability 33 HP:0001249
3 spasticity 33 HP:0001257
4 chorea 33 HP:0002072
5 eeg abnormality 33 HP:0002353
6 behavioral abnormality 33 HP:0000708
7 global developmental delay 33 HP:0001263
8 dyskinesia 33 HP:0100660
9 dystonia 33 HP:0001332

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
spasticity
dystonia
delayed psychomotor development
seizures (in some patients)
more
Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

613970

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...

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

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 6 30 GRIN2B

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

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 6, with or Without Seizures:

42
Brain

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

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

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

76
# 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
5 GRIN2B p.Glu413Gly VAR_079947 rs527236034
6 GRIN2B p.Cys436Arg VAR_079948
7 GRIN2B p.Cys461Phe VAR_079949
8 GRIN2B p.Arg696His VAR_079950

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

6 (show top 50) (show all 277)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2B NM_000834.4(GRIN2B): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs672601378 GRCh37 Chromosome 12, 13768083: 13768083
2 GRIN2B NM_000834.4(GRIN2B): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs672601378 GRCh38 Chromosome 12, 13615149: 13615149
3 GRIN2B NM_000834.4(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh37 Chromosome 12, 13716373: 13716373
4 GRIN2B NM_000834.4(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh38 Chromosome 12, 13563439: 13563439
5 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh37 Chromosome 12, 13716425: 13716425
6 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh38 Chromosome 12, 13563491: 13563491
7 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh37 Chromosome 12, 13716620: 13716620
8 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh38 Chromosome 12, 13563686: 13563686
9 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201963596 GRCh38 Chromosome 12, 13564162: 13564162
10 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201963596 GRCh37 Chromosome 12, 13717096: 13717096
11 GRIN2B NM_000834.4(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh37 Chromosome 12, 13717125: 13717125
12 GRIN2B NM_000834.4(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh38 Chromosome 12, 13564191: 13564191
13 GRIN2B NM_000834.3(GRIN2B): c.2936A> T (p.Asn979Ile) single nucleotide variant Uncertain significance rs796052574 GRCh37 Chromosome 12, 13717236: 13717236
14 GRIN2B NM_000834.3(GRIN2B): c.2936A> T (p.Asn979Ile) single nucleotide variant Uncertain significance rs796052574 GRCh38 Chromosome 12, 13564302: 13564302
15 GRIN2B NM_000834.4(GRIN2B): c.2931C> G (p.Asp977Glu) single nucleotide variant Uncertain significance rs147956755 GRCh38 Chromosome 12, 13564307: 13564307
16 GRIN2B NM_000834.4(GRIN2B): c.2931C> G (p.Asp977Glu) single nucleotide variant Uncertain significance rs147956755 GRCh37 Chromosome 12, 13717241: 13717241
17 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh38 Chromosome 12, 13608755: 13608755
18 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh37 Chromosome 12, 13761689: 13761689
19 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh38 Chromosome 12, 13611717: 13611717
20 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh37 Chromosome 12, 13764651: 13764651
21 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh37 Chromosome 12, 14018852: 14018852
22 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh38 Chromosome 12, 13865918: 13865918
23 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh37 Chromosome 12, 14018953: 14018953
24 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh38 Chromosome 12, 13866019: 13866019
25 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh38 Chromosome 12, 13866069: 13866069
26 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh37 Chromosome 12, 14019003: 14019003
27 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh38 Chromosome 12, 13866148: 13866148
28 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh37 Chromosome 12, 14019082: 14019082
29 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh37 Chromosome 12, 13720098: 13720098
30 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh38 Chromosome 12, 13567164: 13567164
31 GRIN2B NM_000834.4(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh37 Chromosome 12, 13761696: 13761696
32 GRIN2B NM_000834.4(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh38 Chromosome 12, 13608762: 13608762
33 GRIN2B NM_000834.4(GRIN2B): c.411+1G> A single nucleotide variant Pathogenic rs1057519611 GRCh37 Chromosome 12, 14018731: 14018731
34 GRIN2B NM_000834.4(GRIN2B): c.411+1G> A single nucleotide variant Pathogenic rs1057519611 GRCh38 Chromosome 12, 13865797: 13865797
35 GRIN2B NM_000834.4(GRIN2B): c.803_804delCA (p.Thr268Serfs) deletion Pathogenic rs1060499526 GRCh38 Chromosome 12, 13753523: 13753524
36 GRIN2B NM_000834.4(GRIN2B): c.803_804delCA (p.Thr268Serfs) deletion Pathogenic rs1060499526 GRCh37 Chromosome 12, 13906457: 13906458
37 GRIN2B NM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys) single nucleotide variant Pathogenic rs387906636 GRCh37 Chromosome 12, 13724865: 13724865
38 GRIN2B NM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys) single nucleotide variant Pathogenic rs387906636 GRCh38 Chromosome 12, 13571931: 13571931
39 GRIN2B NM_000834.3(GRIN2B): c.2360-2A> G single nucleotide variant Pathogenic rs1057519612 GRCh38 Chromosome 12, 13567265: 13567265
40 GRIN2B NM_000834.3(GRIN2B): c.2360-2A> G single nucleotide variant Pathogenic rs1057519612 GRCh37 Chromosome 12, 13720199: 13720199
41 GRIN2B NM_000834.4(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh37 Chromosome 12, 13768560: 13768560
42 GRIN2B NM_000834.4(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh38 Chromosome 12, 13615626: 13615626
43 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh37 Chromosome 12, 13722953: 13722953
44 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh38 Chromosome 12, 13570019: 13570019
45 GRIN2B NM_000834.4(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh37 Chromosome 12, 13764762: 13764762
46 GRIN2B NM_000834.4(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh38 Chromosome 12, 13611828: 13611828
47 GRIN2B NM_000834.4(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh37 Chromosome 12, 13764781: 13764781
48 GRIN2B NM_000834.4(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh38 Chromosome 12, 13611847: 13611847
49 GRIN2B NM_000834.4(GRIN2B): c.771C> T (p.Ile257=) single nucleotide variant Benign rs142203984 GRCh37 Chromosome 12, 13906490: 13906490
50 GRIN2B NM_000834.4(GRIN2B): c.771C> T (p.Ile257=) single nucleotide variant Benign rs142203984 GRCh38 Chromosome 12, 13753556: 13753556

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

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