MCID: MNT186
MIFTS: 16

Mental Retardation, Autosomal Dominant 10 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 10

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 10:

Name: Mental Retardation, Autosomal Dominant 10 50 68 25 12
 
Mrd10 68

Characteristics:

HPO:

62
mental retardation, autosomal dominant 10:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614256
MedGen35 C3280284
MeSH37 D008607

Summaries for Mental Retardation, Autosomal Dominant 10

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UniProtKB/Swiss-Prot:68 Mental retardation, autosomal dominant 10: 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 10, is also known as mrd10, and has symptoms including intellectual disability An important gene associated with Mental Retardation, Autosomal Dominant 10 is CACNG2 (Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2).

Description from OMIM:50 614256

Related Diseases for Mental Retardation, Autosomal Dominant 10

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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 10

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Clinical features from OMIM:

614256

HPO human phenotypes related to Mental Retardation, Autosomal Dominant 10:

id Description Frequency HPO Source Accession
1 intellectual disability very rare (1%) HP:0001249

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 10

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 10

Genetic Tests for Mental Retardation, Autosomal Dominant 10

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Genetic tests related to Mental Retardation, Autosomal Dominant 10:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 1025

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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Publications for Mental Retardation, Autosomal Dominant 10

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Variations for Mental Retardation, Autosomal Dominant 10

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

68
id Symbol AA change Variation ID SNP ID
1CACNG2p.Val143LeuVAR_066599

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 10:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CACNG2CACNG2, VAL143LEUsingle nucleotide variantPathogenic

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 10

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

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Sources for Mental Retardation, Autosomal Dominant 10

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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