MCID: MNT144
MIFTS: 16

Mental Retardation, Autosomal Dominant 6 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Mental Retardation, Autosomal Dominant 6

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MalaCards based summary: Mental Retardation, Autosomal Dominant 6 and has symptoms including autosomal dominant inheritance, behavioral abnormality and intellectual disability. An important gene associated with Mental Retardation, Autosomal Dominant 6 is GRIN2B (glutamate receptor, ionotropic, N-methyl D-aspartate 2B).

Description from OMIM:47 613970

Aliases & Classifications for Mental Retardation, Autosomal Dominant 6

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Mental Retardation, Autosomal Dominant 6, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 6 47 11 22 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM47 613970

Related Diseases for Mental Retardation, Autosomal Dominant 6

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Diseases in the Mental Retardation family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
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 31
Mental Retardation, Autosomal Recessive 46 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 Recessive 39
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 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 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
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 11
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant, 28

Symptoms for Mental Retardation, Autosomal Dominant 6

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Clinical features from OMIM:

613970

HPO human phenotypes related to Mental Retardation, Autosomal Dominant 6:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 behavioral abnormality HP:0000708
3 intellectual disability HP:0001249
4 eeg abnormality HP:0002353

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 6

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 6

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 622 24 GRIN2B

Anatomical Context for Mental Retardation, Autosomal Dominant 6

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Animal Models for Mental Retardation, Autosomal Dominant 6 or affiliated genes

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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:

64
id Symbol AA change Variation ID SNP ID
1GRIN2Bp.Arg682CysVAR_065900
2GRIN2Bp.Pro553LeuVAR_069384

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

7
id Gene Variation Type Significance SNP ID Assembly Location
1GRIN2BNM_000834.3(GRIN2B): c.1238A> G (p.Glu413Gly)single nucleotide variantPathogenicGRCh37Chr 12, 13769479: 13769479
2GRIN2BGRIN2B, IVS2DS, G-A, +1single nucleotide variantPathogenic
3GRIN2BGRIN2B, 2-BP DEL, 803CAdeletionPathogenic
4GRIN2BNM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys)single nucleotide variantPathogenicrs387906636GRCh37Chr 12, 13724865: 13724865
5GRIN2BGRIN2B, IVS11AS, A-G, -2single nucleotide variantPathogenic
6GRIN2BNM_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs)duplicationPathogenicrs398122823GRCh37Chr 12, 14019043: 14019044
7GRIN2BNM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr)single nucleotide variantPathogenicrs397514555GRCh37Chr 12, 13768560: 13768560
8GRIN2BNM_000834.3(GRIN2B): c.2172-2A> Gsingle nucleotide variantPathogenicrs398122824GRCh37Chr 12, 13722953: 13722953
9GRIN2BNM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter)single nucleotide variantPathogenicrs398122825GRCh37Chr 12, 13764762: 13764762
10GRIN2BNM_000834.3(GRIN2B): c.1658C> T (p.Pro553Leu)single nucleotide variantPathogenicrs397514556GRCh37Chr 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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Compounds 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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Products for genes affiliated with Mental Retardation, Autosomal Dominant 6

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, Autosomal Dominant 6

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet