MCID: MNT186
MIFTS: 36

Mental Retardation, Autosomal Dominant 10 malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Fetal diseases, Eye diseases categories

Summaries for Mental Retardation, Autosomal Dominant 10

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48OMIM, 34MalaCards
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MalaCards: Mental Retardation, Autosomal Dominant 10, also known as autosomal dominant non-syndromic intellectual disability, is related to temporal lobe epilepsy and lagophthalmos. 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 Amyotrophic lateral sclerosis (ALS) and Calcium channels. The compounds (+)-ha966 and l-aspartate have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and growth/size/body.

Description from OMIM:48 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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48OMIM, 50Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50

Aliases & Descriptions:

mental retardation, autosomal dominant 10 48
autosomal dominant non-syndromic intellectual disability 50


Related Diseases for Mental Retardation, Autosomal Dominant 10

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18GeneCards, 19GeneDecks
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Diseases in the Mental Retardation, Autosomal Recessive 43 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Dominant 23
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 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, 37
Mental Retardation, Autosomal Dominant 24 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 Recessive 41
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant, 28
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
1temporal lobe epilepsy10.0GRIN2B, GRIN1
2lagophthalmos10.0MBD5, DOCK8
3epilepsy syndrome10.0GRIN2B, GRIN1, CACNG2
4memory impairment10.0GRIN1, DYRK1A

Symptoms for Mental Retardation, Autosomal Dominant 10

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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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38MGI
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MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 10:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9KIF1A, GRIN1, SYNGAP1, CACNG2, DYNC1H1, KIRREL3
2MP:00053786.7TCF4, SYNGAP1, CACNG2, DYRK1A, DYNC1H1, KIF1A
3MP:00107686.5SYNGAP1, GRIN2B, GRIN1, KIF1A, DYNC1H1, DYRK1A
4MP:00036315.9EPB41L1, GRIN2B, MBD5, GRIN1, KIF1A, KIRREL3

Publications for Mental Retardation, Autosomal Dominant 10

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Variations for Mental Retardation, Autosomal Dominant 10

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 10:

65
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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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 13EMD Millipore, 61Thomson Reuters, 56Reactome, 55R&D Systems, 5Cell Signaling Technology
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Pathways related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.9GRIN1, GRIN2B
29.9GRIN2B, GRIN1
3
Show member pathways
9.9GRIN2B, GRIN1
49.9GRIN2B, GRIN1
5
Show member pathways
9.9GRIN2B, GRIN1
69.9GRIN2B, GRIN1
79.9GRIN2B, GRIN1
89.9GRIN1, GRIN2B
9
Show member pathways
9.7CACNG2, EPB41L1
10
Show member pathways
9.4CDH15, TCF4
11
Show member pathways
9.3GRIN2B, GRIN1, SYNGAP1
12
Show member pathways
9.1EPB41L1, CACNG2, GRIN1, GRIN2B
138.6GRIN2B, GRIN1, DYRK1A, CACNG2, SYNGAP1

Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 10

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Sources:
30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank, 46Novoseek, 52PharmGKB
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Compounds related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1(+)-ha9663010.2GRIN2B, GRIN1
2l-aspartate3010.2GRIN1, GRIN2B
3[3h]mdl1055193010.2GRIN2B, GRIN1
4homoquinolinic acid3010.2GRIN2B, GRIN1
5l6895603010.2GRIN2B, GRIN1
6[3h]l6895603010.2GRIN2B, GRIN1
7[3h]mk-8013010.2GRIN2B, GRIN1
8gv196771a3010.2GRIN2B, GRIN1
9[3h]cpp3010.2GRIN1, GRIN2B
10[3h]cgp396533010.2GRIN2B, GRIN1
11d-aspartate3010.2GRIN2B, GRIN1
12l7013243010.2GRIN2B, GRIN1
13(rs)-(tetrazol-5-yl)glycine3010.2GRIN2B, GRIN1
14[3h]cgs197553010.2GRIN2B, GRIN1
15[3h]cgp615943010.2GRIN2B, GRIN1
16[3h]glycine3010.1GRIN2B, GRIN1
175,7-dichlorokynurenic acid3010.1GRIN2B, GRIN1
18dl-ap5 sodium salt6210.1GRIN1, GRIN2B
19(+)-mk 801 maleate6210.1GRIN1, GRIN2B
20dl-ap56210.1GRIN1, GRIN2B
21d-ap562 3011.0GRIN1, GRIN2B
22qnz 466210.0GRIN1, GRIN2B
23d-serine30 25 1211.9GRIN1, GRIN2B
24meperidine46 1210.9GRIN2B, GRIN1
25lithium46 52 25 1212.9CACNG2, GRIN1, GRIN2B
26glycine30 25 1211.9GRIN2B, GRIN1
27alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid469.8GRIN1, CACNG2
28kainate46 3010.7GRIN2B, GRIN1, CACNG2
29phencyclidine46 30 1211.6GRIN2B, GRIN1
30nmda46 3010.4SYNGAP1, CACNG2, GRIN1, GRIN2B

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

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17Gene Ontology
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Cellular components related to Mental Retardation, Autosomal Dominant 10 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1N-methyl-D-aspartate selective glutamate receptor complexGO:0171469.9GRIN2B, GRIN1
2synaptic vesicleGO:0080219.9GRIN2B, GRIN1
3neuron projectionGO:0430059.4GRIN2B, GRIN1, KIF1A
4dendritic shaftGO:0431989.3KIRREL3, SYNGAP1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1suckling behaviorGO:00196710.0GRIN1, GRIN2B
2ionotropic glutamate receptor signaling pathwayGO:03523510.0GRIN2B, GRIN1
3regulation of excitatory postsynaptic membrane potentialGO:0600799.9GRIN1, GRIN2B
4regulation of long-term neuronal synaptic plasticityGO:0481699.8GRIN1, SYNGAP1
5synaptic transmission, glutamatergicGO:0352499.8GRIN2B, GRIN1
6regulation of synaptic plasticityGO:0481679.7GRIN2B, SYNGAP1
7transportGO:0068109.5GRIN2B, DYNC1H1, CACNG2
8visual learningGO:0085429.3SYNGAP1, GRIN1
9synaptic transmissionGO:0072689.3GRIN2B, GRIN1, CACNG2, EPB41L1

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:0049729.9GRIN2B, GRIN1
2glycine bindingGO:0165949.9GRIN2B, GRIN1
3calcium channel activityGO:0052629.9GRIN2B, GRIN1
4extracellular-glutamate-gated ion channel activityGO:0052349.8GRIN1, GRIN2B
5protein bindingGO:0055156.6TCF4, DOCK8, CACNG2, DYRK1A, DYNC1H1, KIRREL3

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet