MCID: MNT320
MIFTS: 19

Mental Retardation, Autosomal Dominant 6, with or Without Seizures

Categories: Genetic diseases, Neuronal diseases, Mental 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 75
Mental Retardation, Autosomal Dominant 6 57 29 13 6 73
Mrd6 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable severity
de novo mutation


HPO:

32
mental retardation, autosomal dominant 6, with or without seizures:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613970
MedGen 42 C3151411
MeSH 44 D008607
UMLS 73 C3151411

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)

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 behavioral abnormality and intellectual disability

UniProtKB/Swiss-Prot : 75 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 10.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
intellectual disability
abnormal movements
dystonia
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

613970

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

32
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 intellectual disability 32 HP:0001249
3 eeg abnormality 32 HP:0002353

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 29 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:

41
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:

75
# 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 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2B NM_000834.4(GRIN2B): c.411+1G> A single nucleotide variant Pathogenic rs1057519611 GRCh37 Chromosome 12, 14018731: 14018731
2 GRIN2B NM_000834.4(GRIN2B): c.411+1G> A single nucleotide variant Pathogenic rs1057519611 GRCh38 Chromosome 12, 13865797: 13865797
3 GRIN2B NM_000834.4(GRIN2B): c.803_804delCA (p.Thr268Serfs) deletion Pathogenic rs1060499526 GRCh38 Chromosome 12, 13753523: 13753524
4 GRIN2B NM_000834.4(GRIN2B): c.803_804delCA (p.Thr268Serfs) deletion Pathogenic rs1060499526 GRCh37 Chromosome 12, 13906457: 13906458
5 GRIN2B NM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys) single nucleotide variant Pathogenic rs387906636 GRCh37 Chromosome 12, 13724865: 13724865
6 GRIN2B NM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys) single nucleotide variant Pathogenic rs387906636 GRCh38 Chromosome 12, 13571931: 13571931
7 GRIN2B NM_000834.3(GRIN2B): c.2360-2A> G single nucleotide variant Pathogenic rs1057519612 GRCh38 Chromosome 12, 13567265: 13567265
8 GRIN2B NM_000834.3(GRIN2B): c.2360-2A> G single nucleotide variant Pathogenic rs1057519612 GRCh37 Chromosome 12, 13720199: 13720199
9 GRIN2B NM_000834.4(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh37 Chromosome 12, 13768560: 13768560
10 GRIN2B NM_000834.4(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh38 Chromosome 12, 13615626: 13615626
11 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh37 Chromosome 12, 13722953: 13722953
12 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh38 Chromosome 12, 13570019: 13570019
13 GRIN2B NM_000834.4(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh37 Chromosome 12, 13764762: 13764762
14 GRIN2B NM_000834.4(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh38 Chromosome 12, 13611828: 13611828
15 GRIN2B NM_000834.4(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh37 Chromosome 12, 13764781: 13764781
16 GRIN2B NM_000834.4(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh38 Chromosome 12, 13611847: 13611847
17 GRIN2B NM_000834.4(GRIN2B): c.1238A> G (p.Glu413Gly) single nucleotide variant Pathogenic rs527236034 GRCh37 Chromosome 12, 13769479: 13769479
18 GRIN2B NM_000834.4(GRIN2B): c.1238A> G (p.Glu413Gly) single nucleotide variant Pathogenic rs527236034 GRCh38 Chromosome 12, 13616545: 13616545
19 GRIN2B NM_000834.4(GRIN2B): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs672601378 GRCh37 Chromosome 12, 13768083: 13768083
20 GRIN2B NM_000834.4(GRIN2B): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs672601378 GRCh38 Chromosome 12, 13615149: 13615149
21 GRIN2B NM_000834.3(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh37 Chromosome 12, 13716373: 13716373
22 GRIN2B NM_000834.3(GRIN2B): c.3799G> T (p.Ala1267Ser) single nucleotide variant Benign/Likely benign rs141844705 GRCh38 Chromosome 12, 13563439: 13563439
23 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh37 Chromosome 12, 13716425: 13716425
24 GRIN2B NM_000834.3(GRIN2B): c.3747C> T (p.Gly1249=) single nucleotide variant Conflicting interpretations of pathogenicity rs138771137 GRCh38 Chromosome 12, 13563491: 13563491
25 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh37 Chromosome 12, 13716620: 13716620
26 GRIN2B NM_000834.4(GRIN2B): c.3552C> T (p.Gly1184=) single nucleotide variant Conflicting interpretations of pathogenicity rs141886903 GRCh38 Chromosome 12, 13563686: 13563686
27 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Uncertain significance rs201963596 GRCh38 Chromosome 12, 13564162: 13564162
28 GRIN2B NM_000834.3(GRIN2B): c.3076G> A (p.Gly1026Ser) single nucleotide variant Uncertain significance rs201963596 GRCh37 Chromosome 12, 13717096: 13717096
29 GRIN2B NM_000834.3(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh37 Chromosome 12, 13717125: 13717125
30 GRIN2B NM_000834.3(GRIN2B): c.3047G> A (p.Arg1016Lys) single nucleotide variant Uncertain significance rs141109968 GRCh38 Chromosome 12, 13564191: 13564191
31 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh38 Chromosome 12, 13608755: 13608755
32 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh37 Chromosome 12, 13761689: 13761689
33 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh38 Chromosome 12, 13611717: 13611717
34 GRIN2B NM_000834.4(GRIN2B): c.1780+8C> T single nucleotide variant Benign rs199986080 GRCh37 Chromosome 12, 13764651: 13764651
35 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh37 Chromosome 12, 14018852: 14018852
36 GRIN2B NM_000834.4(GRIN2B): c.291G> A (p.Val97=) single nucleotide variant Conflicting interpretations of pathogenicity rs202223470 GRCh38 Chromosome 12, 13865918: 13865918
37 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh37 Chromosome 12, 14018953: 14018953
38 GRIN2B NM_000834.4(GRIN2B): c.190G> A (p.Val64Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150070901 GRCh38 Chromosome 12, 13866019: 13866019
39 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh38 Chromosome 12, 13866069: 13866069
40 GRIN2B NM_000834.4(GRIN2B): c.140A> G (p.Glu47Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs199526748 GRCh37 Chromosome 12, 14019003: 14019003
41 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh38 Chromosome 12, 13866148: 13866148
42 GRIN2B NM_000834.4(GRIN2B): c.61G> A (p.Val21Met) single nucleotide variant Conflicting interpretations of pathogenicity rs79046967 GRCh37 Chromosome 12, 14019082: 14019082
43 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh37 Chromosome 12, 13720098: 13720098
44 GRIN2B NM_000834.3(GRIN2B): c.2459G> C (p.Gly820Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797044849 GRCh38 Chromosome 12, 13567164: 13567164
45 GRIN2B NM_000834.3(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh37 Chromosome 12, 13761696: 13761696
46 GRIN2B NM_000834.3(GRIN2B): c.1851C> T (p.Ser617=) single nucleotide variant Conflicting interpretations of pathogenicity rs147373250 GRCh38 Chromosome 12, 13608762: 13608762
47 GRIN2B NM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser) single nucleotide variant Pathogenic/Likely pathogenic rs869312868 GRCh38 Chromosome 12, 13571910: 13571910
48 GRIN2B NM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser) single nucleotide variant Pathogenic/Likely pathogenic rs869312868 GRCh37 Chromosome 12, 13724844: 13724844
49 GRIN2B NM_000834.4(GRIN2B): c.2252T> C (p.Ile751Thr) single nucleotide variant Pathogenic/Likely pathogenic rs876661055 GRCh37 Chromosome 12, 13722871: 13722871
50 GRIN2B NM_000834.4(GRIN2B): c.2252T> C (p.Ile751Thr) single nucleotide variant Pathogenic/Likely pathogenic rs876661055 GRCh38 Chromosome 12, 13569937: 13569937

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

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