MCID: MNT186
MIFTS: 16

Mental Retardation, Autosomal Dominant 10

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Skin diseases, Eye diseases, Metabolic diseases, Bone diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 10

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 10:

Name: Mental Retardation, Autosomal Dominant 10 53 71 28 13 69
Mrd10 53 71

Characteristics:

HPO:

31
mental retardation, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614256
MedGen 39 C3280284
MeSH 41 D008607
UMLS 69 C3280284

Summaries for Mental Retardation, Autosomal Dominant 10

UniProtKB/Swiss-Prot : 71 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: 614256

Related Diseases for Mental Retardation, Autosomal Dominant 10

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 10

Clinical features from OMIM:

614256

Human phenotypes related to Mental Retardation, Autosomal Dominant 10:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 10

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 10

Genetic Tests for Mental Retardation, Autosomal Dominant 10

Genetic tests related to Mental Retardation, Autosomal Dominant 10:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 10 28 CACNG2

Anatomical Context for Mental Retardation, Autosomal Dominant 10

Publications for Mental Retardation, Autosomal Dominant 10

Variations for Mental Retardation, Autosomal Dominant 10

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

71
# Symbol AA change Variation ID SNP ID
1 CACNG2 p.Val143Leu VAR_066599

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNG2 CACNG2, VAL143LEU single nucleotide variant Pathogenic

Expression for Mental Retardation, Autosomal Dominant 10

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 10.

Pathways for Mental Retardation, Autosomal Dominant 10

GO Terms for Mental Retardation, Autosomal Dominant 10

Sources for Mental Retardation, Autosomal Dominant 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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