MRD10
MCID: MNT186
MIFTS: 16

Mental Retardation, Autosomal Dominant 10 (MRD10) 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 52 70 27 12 68
 
Mrd10 70

Characteristics:

HPO:

64
mental retardation, autosomal dominant 10:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614256
MedGen37 C3280284
MeSH39 D008607

Summaries for Mental Retardation, Autosomal Dominant 10

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UniProtKB/Swiss-Prot:70 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:52 614256

Related Diseases for Mental Retardation, Autosomal Dominant 10

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Diseases in the Mental Retardation, Autosomal Dominant 22 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, 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 Dominant 13
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 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 10

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Clinical features from OMIM:

614256

Human phenotypes related to Mental Retardation, Autosomal Dominant 10:

 64
id Description HPO Frequency HPO Source Accession
1 intellectual disability64 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 1027

Anatomical Context for Mental Retardation, Autosomal Dominant 10

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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:

70
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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet