MCID: MNT144
MIFTS: 22

Mental Retardation, Autosomal Dominant 6 malady

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 6:

Name: Mental Retardation, Autosomal Dominant 6 52 24 70 27 12 68
 
Mrd6 70

Characteristics:

HPO:

64
mental retardation, autosomal dominant 6:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613970
MedGen37 C3151411
MeSH39 D008607

Summaries for Mental Retardation, Autosomal Dominant 6

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UniProtKB/Swiss-Prot:70 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 behavioral abnormality, intellectual disability and eeg abnormality. An important gene associated with Mental Retardation, Autosomal Dominant 6 is GRIN2B (Glutamate Ionotropic Receptor NMDA Type Subunit 2B).

Description from OMIM:52 613970

Related Diseases for Mental Retardation, Autosomal Dominant 6

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Diseases in the Mental Retardation, Autosomal Dominant 11 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 22
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 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

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Clinical features from OMIM:

613970

Human phenotypes related to Mental Retardation, Autosomal Dominant 6:

 64
id Description HPO Frequency HPO Source Accession
1 behavioral abnormality64 HP:0000708
2 intellectual disability64 HP:0001249
3 eeg abnormality64 HP:0002353

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Celiprololapproved, investigationalPhase 4256980-93-9
Synonyms:
 
RS)-N'-{3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl}-N,N-diethylurea
2Neurotransmitter AgentsPhase 417734
3Peripheral Nervous System AgentsPhase 422776
4Vasodilator AgentsPhase 43438
5Autonomic AgentsPhase 49774
6Antihypertensive AgentsPhase 44095
7Adrenergic AntagonistsPhase 41535
8Adrenergic beta-1 Receptor AntagonistsPhase 4350
9Adrenergic beta-AntagonistsPhase 41154
10Anti-Arrhythmia AgentsPhase 42969
11Adrenergic AgentsPhase 45140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular TypeCompletedNCT00190411Phase 4
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 6

Genetic Tests for Mental Retardation, Autosomal Dominant 6

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Genetic tests related to Mental Retardation, Autosomal Dominant 6:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 627 24 GRIN2B

Anatomical Context for Mental Retardation, Autosomal Dominant 6

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Publications for Mental Retardation, Autosomal Dominant 6

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Variations for Mental Retardation, Autosomal Dominant 6

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

70
id Symbol AA change Variation ID SNP ID
1GRIN2Bp.Arg682CysVAR_065900rs387906636
2GRIN2Bp.Pro553LeuVAR_069384rs397514556
3GRIN2Bp.Cys456TyrVAR_076764rs397514555

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

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1GRIN2BNM_000834.3(GRIN2B): c.1238A> G (p.Glu413Gly)SNVPathogenicrs527236034GRCh37Chr 12, 13769479: 13769479
2GRIN2BNM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser)SNVLikely pathogenicrs869312868GRCh38Chr 12, 13571910: 13571910
3GRIN2BNM_000834.3(GRIN2B): c.2045G> A (p.Arg682His)SNVLikely pathogenicrs886041095GRCh37Chr 12, 13724864: 13724864
4GRIN2BNM_000834.3(GRIN2B): c.1823T> A (p.Leu608Ter)SNVPathogenicrs886043237GRCh37Chr 12, 13761724: 13761724
5GRIN2BGRIN2B, IVS2DS, G-A, +1SNVPathogenicChr na, -1: -1
6GRIN2BGRIN2B, 2-BP DEL, 803CAdeletionPathogenicChr na, -1: -1
7GRIN2BNM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys)SNVPathogenicrs387906636GRCh37Chr 12, 13724865: 13724865
8GRIN2BGRIN2B, IVS11AS, A-G, -2SNVPathogenicChr na, -1: -1
9GRIN2BNM_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs)duplicationPathogenicrs398122823GRCh37Chr 12, 14019044: 14019044
10GRIN2BNM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr)SNVPathogenicrs397514555GRCh37Chr 12, 13768560: 13768560
11GRIN2BNM_000834.3(GRIN2B): c.2172-2A> GSNVPathogenicrs398122824GRCh37Chr 12, 13722953: 13722953
12GRIN2BNM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter)SNVPathogenicrs398122825GRCh37Chr 12, 13764762: 13764762
13GRIN2BNM_000834.3(GRIN2B): c.1658C> T (p.Pro553Leu)SNVPathogenicrs397514556GRCh37Chr 12, 13764781: 13764781

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 6

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

Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 6

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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 6

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Sources for Mental Retardation, Autosomal Dominant 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet