MCID: MNT186
MIFTS: 11

Mental Retardation, Autosomal Dominant 10 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Aliases & Classifications for Mental Retardation, Autosomal Dominant 10

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Mental Retardation, Autosomal Dominant 10, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 10 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 614256

Summaries for Mental Retardation, Autosomal Dominant 10

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MalaCards based summary: Mental Retardation, Autosomal Dominant 10 and has symptoms including intellectual disabilityand autosomal dominant inheritance. An important gene associated with Mental Retardation, Autosomal Dominant 10 is CACNG2 (calcium channel, voltage-dependent, gamma subunit 2).

Description from OMIM:45 614256

Related Diseases for Mental Retardation, Autosomal Dominant 10

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Diseases in the Mental Retardation family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
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 31
Mental Retardation, Autosomal Recessive 46 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 15
Mental Retardation, Autosomal Dominant 30 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 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
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 11
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
mental retardation, autosomal dominant 10 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant, 28

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
2 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 10

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 10

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 1022

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:

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

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

6
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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Compounds 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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Products for genes affiliated with Mental Retardation, Autosomal Dominant 10

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, Autosomal Dominant 10

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet