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 Synaptic Neurotransmission: Glutamatergic Excitation. 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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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:00053867.5GRIN1, SYNGAP1, KIF1A, GRIN2B, CACNG2, DYNC1H1
3MP:00053786.1CTNNB1, SYNGAP1, TCF4, KIF1A, GRIN1, GRIN2B
4MP:00107686.0GRIN1, TCF4, DYRK1A, GRIN2B, SYNGAP1, CTNNB1
5MP:00036315.9CACNG2, TCF4, KIF1A, EPB41L1, GRIN1, GRIN2B

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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53Reactome, 52R&D Systems, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 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
39.8GRIN1, GRIN2B
4
Hide members
9.8GRIN2B, GRIN1
59.8GRIN2B, GRIN1
69.8GRIN2B, GRIN1
7
Hide members
9.8GRIN2B, GRIN1
89.6CDH15, CTNNB1
99.4CDH15, CTNNB1, CACNG2
109.4TCF4, CDH15, CTNNB1
11
Hide members
9.4CDH15, TCF4, CTNNB1
12
Hide members
9.4CTNNB1, CDH15, KIRREL3
139.2GRIN1, GRIN2B, CTNNB1
14
Hide members
9.2CACNG2, EPB41L1, GRIN1, GRIN2B
15
Hide members
8.7SYNGAP1, CTNNB1, CACNG2, TCF4, CDH15
168.3SYNGAP1, CACNG2, DYRK1A, GRIN2B, GRIN1

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-aspartate2810.1GRIN1, GRIN2B
3[3h]cpp2810.1GRIN2B, GRIN1
4[3h]cgp615942810.1GRIN2B, GRIN1
5[3h]cgs197552810.1GRIN2B, GRIN1
6l7013242810.1GRIN1, GRIN2B
7(rs)-(tetrazol-5-yl)glycine2810.1GRIN2B, GRIN1
8homoquinolinic acid2810.1GRIN1, GRIN2B
9gv196771a2810.1GRIN2B, GRIN1
10[3h]mk-8012810.1GRIN2B, GRIN1
11[3h]l6895602810.1GRIN2B, GRIN1
12l6895602810.1GRIN1, GRIN2B
13[3h]mdl1055192810.0GRIN2B, GRIN1
14d-aspartate2810.0GRIN2B, GRIN1
15[3h]cgp396532810.0GRIN2B, GRIN1
16[3h]glycine2810.0GRIN2B, GRIN1
175,7-dichlorokynurenic acid2810.0GRIN2B, GRIN1
18d-ap559 2811.0GRIN2B, GRIN1
19qnz 465910.0GRIN1, GRIN2B
20dl-ap5599.9GRIN2B, GRIN1
21(+)-mk 801 maleate599.9GRIN1, GRIN2B
22dl-ap5 sodium salt599.9GRIN1, GRIN2B
23d-serine28 11 2411.8GRIN2B, GRIN1
24alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid449.8CACNG2, GRIN1
25meperidine44 1110.8GRIN1, GRIN2B
26glycine28 11 2411.8GRIN2B, GRIN1
27phencyclidine44 28 1111.5GRIN2B, GRIN1
28lithium44 49 11 2412.4GRIN2B, CACNG2, CTNNB1, GRIN1
29kainate44 2810.4GRIN1, GRIN2B, CACNG2, CTNNB1
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:0481699.8SYNGAP1, GRIN1
3regulation of excitatory postsynaptic membrane potentialGO:0600799.8GRIN1, GRIN2B
4visual learningGO:0085429.7SYNGAP1, GRIN1
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