MCID: MNT186
MIFTS: 12

Mental Retardation, Autosomal Dominant 10 malady

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

Summaries for Mental Retardation, Autosomal Dominant 10

About this section


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:46 614256

Aliases & Classifications for Mental Retardation, Autosomal Dominant 10

About this section

Mental Retardation, Autosomal Dominant 10, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 10 46


Classifications:



Related Diseases for Mental Retardation, Autosomal Dominant 10

About this section

Diseases in the Mental Retardation, Autosomal Dominant 6 family:

Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 2 Mental Retardation
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 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 Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive 43
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 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, 28
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
mental retardation, autosomal dominant 10

Symptoms for Mental Retardation, Autosomal Dominant 10

About this section


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

About this section

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

About this section

Anatomical Context for Mental Retardation, Autosomal Dominant 10

About this section

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

About this section

Publications for Mental Retardation, Autosomal Dominant 10

About this section

Variations for Mental Retardation, Autosomal Dominant 10

About this section

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

63
id Symbol AA change Variation ID SNP ID
1CACNG2p.Val143LeuVAR_066599

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

7
id Gene Name Type Significance SNP ID Assembly Location
1CACNG2CACNG2, VAL143LEUsingle nucleotide variantPathogenic

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 10

About this section
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

About this section

Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 10

About this section

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

About this section

Products for genes affiliated with Mental Retardation, Autosomal Dominant 10

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, Autosomal Dominant 10

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet