MCID: MNT144
MIFTS: 20

Mental Retardation, Autosomal Dominant 6 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

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 6:

Name: Mental Retardation, Autosomal Dominant 6 50 23 68 25 12
 
Mrd6 68

Characteristics:

HPO:

62
mental retardation, autosomal dominant 6:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613970
MedGen35 C3151411
MeSH37 D008607

Summaries for Mental Retardation, Autosomal Dominant 6

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UniProtKB/Swiss-Prot:68 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:50 613970

Related Diseases for Mental Retardation, Autosomal Dominant 6

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Diseases in the Mental Retardation, Autosomal Dominant 13 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 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

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 behavioral abnormality HP:0000708
2 intellectual disability HP:0001249
3 eeg abnormality 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CeliprololPhase 4256980-93-9
Synonyms:
 
RS)-N'-{3-acetyl-4-[3-(tert-butylamino)-2-hydroxypropoxy]phenyl}-N,N-diethylurea

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 625 23 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:

68
id Symbol AA change Variation ID SNP ID
1GRIN2Bp.Arg682CysVAR_065900rs387906636
2GRIN2Bp.Pro553LeuVAR_069384rs397514556

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GRIN2BNM_000834.3(GRIN2B): c.1238A> G (p.Glu413Gly)single nucleotide variantPathogenicrs527236034GRCh37Chr 12, 13769479: 13769479
2GRIN2BNM_000834.3(GRIN2B): c.2065G> A (p.Gly689Ser)single nucleotide variantLikely pathogenicrs869312868GRCh38Chr 12, 13571910: 13571910
3GRIN2BGRIN2B, IVS2DS, G-A, +1single nucleotide variantPathogenic
4GRIN2BGRIN2B, 2-BP DEL, 803CAdeletionPathogenic
5GRIN2BNM_000834.3(GRIN2B): c.2044C> T (p.Arg682Cys)single nucleotide variantPathogenicrs387906636GRCh37Chr 12, 13724865: 13724865
6GRIN2BGRIN2B, IVS11AS, A-G, -2single nucleotide variantPathogenic
7GRIN2BNM_000834.3(GRIN2B): c.99dupC (p.Ser34Glnfs)duplicationPathogenicrs398122823GRCh37Chr 12, 14019044: 14019044
8GRIN2BNM_000834.3(GRIN2B): c.1367G> A (p.Cys456Tyr)single nucleotide variantPathogenicrs397514555GRCh37Chr 12, 13768560: 13768560
9GRIN2BNM_000834.3(GRIN2B): c.2172-2A> Gsingle nucleotide variantPathogenicrs398122824GRCh37Chr 12, 13722953: 13722953
10GRIN2BNM_000834.3(GRIN2B): c.1677G> A (p.Trp559Ter)single nucleotide variantPathogenicrs398122825GRCh37Chr 12, 13764762: 13764762
11GRIN2BNM_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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet