MCID: MNT143
MIFTS: 14

Mental Retardation, Autosomal Dominant 13 malady

Neuronal diseases category

Summaries for Mental Retardation, Autosomal Dominant 13

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46OMIM, 32MalaCards
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MalaCards: Mental Retardation, Autosomal Dominant 13 An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (dynein, cytoplasmic 1, heavy chain 1).

Description from OMIM:46 614563

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

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Sources:
20GeneTests, 22GTR, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

mental retardation, autosomal dominant 13 20 22 46


Related Diseases for Mental Retardation, Autosomal Dominant 13

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Diseases in the Mental Retardation, Autosomal Recessive 2 family:

mental retardation, autosomal dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Dominant 14
Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 22
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 Recessive 39 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Dominant 17
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 34
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 33 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Dominant 16 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 Mental Retardation, Autosomal Dominant 10

Clinical Features for Mental Retardation, Autosomal Dominant 13

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46OMIM
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Clinical features from OMIM:

614563

Clinical synopsis from OMIM:

614563

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation, Autosomal Dominant 13

Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 13

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 13

Search CenterWatch for Mental Retardation, Autosomal Dominant 13

Genetic Tests for Mental Retardation, Autosomal Dominant 13

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20GeneTests, 22GTR
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Genetic tests related to Mental Retardation, Autosomal Dominant 13:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 1320 22 DYNC1H1

Anatomical Context for Mental Retardation, Autosomal Dominant 13

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Animal Models for Mental Retardation, Autosomal Dominant 13 or affiliated genes

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Publications for Mental Retardation, Autosomal Dominant 13

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Genetic Variations for Mental Retardation, Autosomal Dominant 13

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Mental Retardation, Autosomal Dominant 13:

62
id Symbol AA change Variation ID SNP ID
1DYNC1H1p.His3822ProVAR_065085
2DYNC1H1p.Glu1518LysVAR_067823
3DYNC1H1p.Lys129IleVAR_070580
4DYNC1H1p.Arg1567GlnVAR_070582
5DYNC1H1p.Arg1962CysVAR_070583
6DYNC1H1p.Lys3241ThrVAR_070584
7DYNC1H1p.Lys3336AsnVAR_070585
8DYNC1H1p.Arg3344GlnVAR_070586
9DYNC1H1p.Arg3384GlnVAR_070587

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 13

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 13

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 13.

Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 13

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Compounds for genes affiliated with Mental Retardation, Autosomal Dominant 13

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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 13

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Products for genes affiliated with Mental Retardation, Autosomal Dominant 13

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mental Retardation, Autosomal Dominant 13

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet