MCID: MNT186
MIFTS: 36

Mental Retardation, Autosomal Dominant 10 malady

Neuronal diseases category

Summaries for Mental Retardation, Autosomal Dominant 10

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46OMIM, 32MalaCards
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MalaCards: Mental Retardation, Autosomal Dominant 10, also known as autosomal dominant nonsyndromic intellectual deficit, is related to herpes simplex and bipolar disorder. An important gene associated with Mental Retardation, Autosomal Dominant 10 is CACNG2 (calcium channel, voltage-dependent, gamma subunit 2), and among its related pathways are Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity and Hypothetical Network for Drug Addiction. The compounds (+)-ha966 and l-aspartate have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Description from OMIM:46 614256, 614257, 614563, 615075, 156200 612580, 612581, 612621, 613970, 614104, 614113, 614254, 614255 more

Aliases & Classifications for Mental Retardation, Autosomal Dominant 10

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46OMIM, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

mental retardation, autosomal dominant 10 46
autosomal dominant nonsyndromic intellectual deficit 48


Related Diseases for Mental Retardation, Autosomal Dominant 10

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17GeneCards, 18GeneDecks
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Diseases in the Mental Retardation, Autosomal Recessive 2 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Dominant 14
Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 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 Recessive 39 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Dominant 17
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 34
Mental Retardation, Autosomal Recessive, 9/26 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 10/20 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Dominant 16 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 mental retardation, autosomal dominant 10

Diseases related to Mental Retardation, Autosomal Dominant 10 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1herpes simplex10.0GRIN1
2bipolar disorder10.0GRIN1, GRIN2B
3mental retardation10.0DYRK1A
4schizophrenia10.0CACNG2, GRIN2B, GRIN1
5intellectual disability10.0DYRK1A, SYNGAP1
6lagophthalmos10.0DOCK8, MBD5
7memory impairment10.0GRIN1, DYRK1A
8epilepsy syndrome10.0GRIN1, CACNG2, GRIN2B

Graphical network of diseases related to Mental Retardation, Autosomal Dominant 10:



Diseases related to mental retardation, autosomal dominant 10

Clinical Features for Mental Retardation, Autosomal Dominant 10

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46OMIM
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Clinical features from OMIM:

614256, 614257, 614563, 615075, 156200, 612580, 612581, 612621, 613970, 614104 614113, 614254, 614255 more

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 10

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation, Autosomal Dominant 10

Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 10

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 10

Search CenterWatch for Mental Retardation, Autosomal Dominant 10

Genetic Tests for Mental Retardation, Autosomal Dominant 10

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Anatomical Context for Mental Retardation, Autosomal Dominant 10

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Animal Models for Mental Retardation, Autosomal Dominant 10 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 10:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1TCF4, GRIN1, CTNNB1, CACNG2
2MP:00053867.5CACNG2, DYNC1H1, CTNNB1, SYNGAP1, GRIN2B, GRIN1
3MP:00053786.1MBD5, DYRK1A, DYNC1H1, CACNG2, CTNNB1, SYNGAP1
4MP:00107686.0MBD5, DYRK1A, DYNC1H1, CACNG2, CTNNB1, SYNGAP1
5MP:00036315.9TCF4, CACNG2, DYNC1H1, DYRK1A, MBD5, CTNNB1

Publications for Mental Retardation, Autosomal Dominant 10

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Genetic Variations for Mental Retardation, Autosomal Dominant 10

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mental Retardation, Autosomal Dominant 10:

62
id Symbol AA change Variation ID SNP ID
1CACNG2p.Val143LeuVAR_066599

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 10

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 10

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 10.

Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 10

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Sources:
53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 29KEGG, 52R&D Systems, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9CACNG2, EPB41L1
29.8GRIN1, GRIN2B
3
Hide members
9.8GRIN1, GRIN2B
49.8GRIN1, GRIN2B
5
Hide members
9.8GRIN1, GRIN2B
69.8GRIN2B, GRIN1
79.8GRIN2B, GRIN1
89.6CTNNB1, CDH15
99.4CACNG2, CTNNB1, CDH15
109.4TCF4, CDH15, CTNNB1
11
Hide members
9.4CTNNB1, CDH15, TCF4
12
Hide members
9.4CTNNB1, CDH15, KIRREL3
139.2GRIN1, GRIN2B, CTNNB1
14
Hide members
9.2CACNG2, GRIN2B, GRIN1, EPB41L1
15
Hide members
8.7CACNG2, CTNNB1, SYNGAP1, CDH15, TCF4
168.3GRIN1, GRIN2B, SYNGAP1, DYRK1A, CACNG2

Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 10

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Sources:
28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB, 44Novoseek, 49PharmGKB
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Compounds related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1(+)-ha9662810.1GRIN2B, GRIN1
2l-aspartate2810.1GRIN2B, GRIN1
3homoquinolinic acid2810.1GRIN1, GRIN2B
4[3h]mdl1055192810.1GRIN1, GRIN2B
5l6895602810.1GRIN1, GRIN2B
6[3h]l6895602810.1GRIN1, GRIN2B
7[3h]mk-8012810.1GRIN1, GRIN2B
8gv196771a2810.1GRIN1, GRIN2B
9[3h]cpp2810.1GRIN2B, GRIN1
10[3h]cgp396532810.1GRIN1, GRIN2B
11d-aspartate2810.1GRIN1, GRIN2B
12l7013242810.1GRIN1, GRIN2B
13(rs)-(tetrazol-5-yl)glycine2810.0GRIN1, GRIN2B
14[3h]cgs197552810.0GRIN1, GRIN2B
15[3h]cgp615942810.0GRIN1, GRIN2B
165,7-dichlorokynurenic acid2810.0GRIN2B, GRIN1
17[3h]glycine2810.0GRIN2B, GRIN1
18dl-ap5 sodium salt5910.0GRIN2B, GRIN1
19(+)-mk 801 maleate5910.0GRIN2B, GRIN1
20dl-ap5599.9GRIN2B, GRIN1
21d-ap559 2810.9GRIN2B, GRIN1
22qnz 46599.9GRIN2B, GRIN1
23d-serine28 11 2411.8GRIN1, GRIN2B
24alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid449.8GRIN1, CACNG2
25meperidine44 1110.8GRIN2B, GRIN1
26glycine28 11 2411.8GRIN1, GRIN2B
27phencyclidine44 28 1111.5GRIN1, GRIN2B
28lithium44 49 11 2412.4GRIN1, GRIN2B, CTNNB1, CACNG2
29kainate44 2810.4GRIN1, GRIN2B, CTNNB1, CACNG2
30nmda44 2810.0CACNG2, CTNNB1, SYNGAP1, GRIN2B, GRIN1

GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 10

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16Gene Ontology
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Cellular components related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:0430059.5KIF1A, GRIN1, GRIN2B
2N-methyl-D-aspartate selective glutamate receptor complexGO:0171469.5GRIN1, GRIN2B
3dendritic shaftGO:0431989.2KIRREL3, SYNGAP1, CTNNB1

Biological processes related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1suckling behaviorGO:0019679.9GRIN1, GRIN2B
2regulation of long-term neuronal synaptic plasticityGO:0481699.8GRIN1, SYNGAP1
3regulation of excitatory postsynaptic membrane potentialGO:0600799.8GRIN2B, GRIN1
4visual learningGO:0085429.7GRIN1, SYNGAP1
5positive regulation of muscle cell differentiationGO:0511499.6CDH15, CTNNB1
6regulation of synaptic plasticityGO:0481679.6GRIN2B, SYNGAP1
7synaptic transmissionGO:0072689.4EPB41L1, GRIN1, GRIN2B, CACNG2
8muscle cell differentiationGO:0426929.3CDH15, CTNNB1

Molecular functions related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-methyl-D-aspartate selective glutamate receptor activityGO:0049729.8GRIN1, GRIN2B
2extracellular-glutamate-gated ion channel activityGO:0052349.8GRIN1, GRIN2B
3glycine bindingGO:0165949.7GRIN1, GRIN2B
4ionotropic glutamate receptor bindingGO:0352559.4CTNNB1, CACNG2

Products for genes affiliated with Mental Retardation, Autosomal Dominant 10

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Sources for Mental Retardation, Autosomal Dominant 10

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet