MCID: MNT144
MIFTS: 25

Mental Retardation, Autosomal Dominant 6

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Fetal diseases, Cardiovascular diseases, Bone diseases, Eye diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 6:

Name: Mental Retardation, Autosomal Dominant 6 54 24 71 29 13 69
Mrd6 71

Characteristics:

OMIM:

54
Miscellaneous:
de novo mutation
highly variable severity

Inheritance:
autosomal dominant


HPO:

32
mental retardation, autosomal dominant 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 6

OMIM : 54
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, is also known as mrd6, and has symptoms including intellectual disability, eeg abnormality and behavioral abnormality. An important gene associated with Mental Retardation, Autosomal Dominant 6 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B). The drugs Celiprolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 71 Mental retardation, autosomal dominant 6: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Mental Retardation, Autosomal Dominant 6

Diseases in the Mental Retardation, Autosomal Dominant 22 family:

Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 10 Mental Retardation 105

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 6

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
malformations of cortical development (in some patients)
spasticity
choreiform movements
dyskinesias
dystonia
more
Muscle Soft Tissue:
hypotonia

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


Clinical features from OMIM:

613970

Human phenotypes related to Mental Retardation, Autosomal Dominant 6:

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

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6

Drugs for Mental Retardation, Autosomal Dominant 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic Agents Phase 4
3 Adrenergic Antagonists Phase 4
4 Adrenergic beta-1 Receptor Antagonists Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Neurotransmitter Agents Phase 4
7 Vasodilator Agents Phase 4
8 Anti-Arrhythmia Agents Phase 4
9 Peripheral Nervous System Agents Phase 4
10 Antihypertensive Agents Phase 4
11 Autonomic Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 6

Genetic Tests for Mental Retardation, Autosomal Dominant 6

Genetic tests related to Mental Retardation, Autosomal Dominant 6:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 6 29 24 GRIN2B

Anatomical Context for Mental Retardation, Autosomal Dominant 6

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 6:

39
Brain

Publications for Mental Retardation, Autosomal Dominant 6

Variations for Mental Retardation, Autosomal Dominant 6

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 6:

71
id 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

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 6:

6 (show all 16)
id 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.803_804delCA (p.Thr268Serfs) deletion Pathogenic rs1060499526 GRCh38 Chromosome 12, 13753523: 13753524
3 GRIN2B NM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys) single nucleotide variant Pathogenic rs387906636 GRCh37 Chromosome 12, 13724865: 13724865
4 GRIN2B NM_000834.3(GRIN2B): c.2360-2A> G single nucleotide variant Pathogenic rs1057519612 GRCh38 Chromosome 12, 13567265: 13567265
5 GRIN2B NM_000834.4(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh37 Chromosome 12, 13768560: 13768560
6 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh37 Chromosome 12, 13722953: 13722953
7 GRIN2B NM_000834.4(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh37 Chromosome 12, 13764762: 13764762
8 GRIN2B NM_000834.4(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh37 Chromosome 12, 13764781: 13764781
9 GRIN2B NM_000834.4(GRIN2B): c.1238A> G (p.Glu413Gly) single nucleotide variant Pathogenic rs527236034 GRCh37 Chromosome 12, 13769479: 13769479
10 GRIN2B NM_000834.4(GRIN2B): c.1619G> A (p.Arg540His) single nucleotide variant Pathogenic rs672601378 GRCh37 Chromosome 12, 13768083: 13768083
11 GRIN2B NM_000834.3(GRIN2B): c.1858G> A (p.Val620Met) single nucleotide variant Likely pathogenic rs796052571 GRCh38 Chromosome 12, 13608755: 13608755
12 GRIN2B NM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser) single nucleotide variant Pathogenic/Likely pathogenic rs869312868 GRCh38 Chromosome 12, 13571910: 13571910
13 GRIN2B NM_000834.3(GRIN2B): c.2045G> A (p.Arg682His) single nucleotide variant Likely pathogenic rs886041095 GRCh37 Chromosome 12, 13724864: 13724864
14 GRIN2B NM_000834.4(GRIN2B): c.1823T> A (p.Leu608Ter) single nucleotide variant Pathogenic rs886043237 GRCh37 Chromosome 12, 13761724: 13761724
15 GRIN2B NM_000834.4(GRIN2B): c.1821G> C (p.Trp607Cys) single nucleotide variant Likely pathogenic rs1057518700 GRCh38 Chromosome 12, 13608792: 13608792
16 GRIN2B NM_000834.4(GRIN2B): c.99dup (p.Ser34Glnfs) duplication Pathogenic/Likely pathogenic rs398122823 GRCh38 Chromosome 12, 13866110: 13866110

Expression for Mental Retardation, Autosomal Dominant 6

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 6.

Pathways for Mental Retardation, Autosomal Dominant 6

GO Terms for Mental Retardation, Autosomal Dominant 6

Sources for Mental Retardation, Autosomal Dominant 6

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