MCID: MNT143
MIFTS: 16

Mental Retardation, Autosomal Dominant 13 malady

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

Summaries for Mental Retardation, Autosomal Dominant 13

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48OMIM, 34MalaCards
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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:48 614563

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

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21GeneTests, 23GTR, 48OMIM
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Classifications:



Aliases & Descriptions:

mental retardation, autosomal dominant 13 21 23 48


Related Diseases for Mental Retardation, Autosomal Dominant 13

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Diseases in the Mental Retardation, Autosomal Recessive 43 family:

mental retardation, autosomal dominant 13 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 2
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, 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, 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 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 13

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48OMIM
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Symptoms by clinical synopsis from OMIM:

614563

Clinical features from OMIM:

614563

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Mental Retardation, Autosomal Dominant 13:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 1321 23 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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Variations for Mental Retardation, Autosomal Dominant 13

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 13:

65
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

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 13:

1
id Gene Name Type Significance SNP ID Assembly Location
1DYNC1H1NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro)single nucleotide variantPathogenicrs387906739GRCh37Chr 14, 102505753: 102505753
2DYNC1H1NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys)single nucleotide variantPathogenicrs387906740GRCh37Chr 14, 102468883: 102468883
3DYNC1H1NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn)single nucleotide variantPathogenicrs397509410GRCh37Chr 14, 102498733: 102498733
4DYNC1H1NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln)single nucleotide variantPathogenicrs397509411GRCh37Chr 14, 102499473: 102499473
5DYNC1H1NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln)single nucleotide variantPathogenicrs397509412GRCh37Chr 14, 102498756: 102498756

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 13

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation, Autosomal Dominant 13

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet