MRD6
MCID: MNT144
MIFTS: 22

Mental Retardation, Autosomal Dominant 6 (MRD6) malady

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

Aliases & Descriptions for Mental Retardation, Autosomal Dominant 6:

Name: Mental Retardation, Autosomal Dominant 6 54 24 66 29 13 69
Mrd6 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613970
MedGen 40 C3151411
MeSH 42 D008607

Summaries for Mental Retardation, Autosomal Dominant 6

UniProtKB/Swiss-Prot : 66 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.

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.

Description from OMIM: 613970

Related Diseases for Mental Retardation, Autosomal Dominant 6

Diseases in the Mental Retardation, Autosomal Dominant 22 family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 37 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 5
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 Recessive 18 Mental Retardation, Autosomal Dominant 12
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 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 Dominant 17
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 32 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 Dominant 29
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Dominant 16
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 6

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 Neurotransmitter Agents Phase 4
6 Adrenergic beta-Antagonists Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Vasodilator Agents Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Antihypertensive Agents Phase 4
11 Autonomic Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
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

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:

66
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

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2B NM_000834.3(GRIN2B): c.411+1G> A single nucleotide variant Pathogenic rs1057519611 GRCh37 Chromosome 12, 14018731: 14018731
2 GRIN2B NM_000834.3(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_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs) duplication Pathogenic rs398122823 GRCh37 Chromosome 12, 14019044: 14019044
6 GRIN2B NM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr) single nucleotide variant Pathogenic rs397514555 GRCh37 Chromosome 12, 13768560: 13768560
7 GRIN2B NM_000834.3(GRIN2B): c.2172-2A> G single nucleotide variant Pathogenic rs398122824 GRCh37 Chromosome 12, 13722953: 13722953
8 GRIN2B NM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs398122825 GRCh37 Chromosome 12, 13764762: 13764762
9 GRIN2B NM_000834.3(GRIN2B): c.1658C> T (p.Pro553Leu) single nucleotide variant Pathogenic rs397514556 GRCh37 Chromosome 12, 13764781: 13764781
10 GRIN2B NM_000834.3(GRIN2B): c.1238A> G (p.Glu413Gly) single nucleotide variant Pathogenic rs527236034 GRCh37 Chromosome 12, 13769479: 13769479
11 GRIN2B NM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser) single nucleotide variant Pathogenic/Likely pathogenic rs869312868 GRCh38 Chromosome 12, 13571910: 13571910
12 GRIN2B NM_000834.3(GRIN2B): c.2045G> A (p.Arg682His) single nucleotide variant Likely pathogenic rs886041095 GRCh37 Chromosome 12, 13724864: 13724864
13 GRIN2B NM_000834.3(GRIN2B): c.1823T> A (p.Leu608Ter) single nucleotide variant Pathogenic rs886043237 GRCh37 Chromosome 12, 13761724: 13761724
14 GRIN2B NM_000834.3(GRIN2B): c.1821G> C (p.Trp607Cys) single nucleotide variant Likely pathogenic rs1057518700 GRCh38 Chromosome 12, 13608792: 13608792

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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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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