MCID: MNT143
MIFTS: 20

Mental Retardation, Autosomal Dominant 13 malady

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

Summaries for Mental Retardation, Autosomal Dominant 13

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OMIM:46 MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting...614563 more...

MalaCards based summary: Mental Retardation, Autosomal Dominant 13 and has symptoms including cerebellar hypoplasia, abnormality of the foot and hypoplasia of the corpus callosum. An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (dynein, cytoplasmic 1, heavy chain 1).

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

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Mental Retardation, Autosomal Dominant 13, Aliases & Descriptions:

Name: Mental Retardation, Autosomal Dominant 13 21 23 46


Classifications:



Related Diseases for Mental Retardation, Autosomal Dominant 13

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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 13

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Symptoms by clinical synopsis from OMIM:

614563

Clinical features from OMIM:

614563

HPO human phenotypes related to Mental Retardation, Autosomal Dominant 13:

(show all 19)
id Description Frequency HPO Source Accession
1 cerebellar hypoplasia rare (5%) HP:0001321
2 abnormality of the foot rare (5%) HP:0001760
3 hypoplasia of the corpus callosum rare (5%) HP:0002079
4 hypoplasia of the brainstem rare (5%) HP:0002365
5 peripheral axonal neuropathy rare (5%) HP:0003477
6 small hand rare (5%) HP:0200055
7 spastic tetraplegia 3% HP:0002510
8 autosomal dominant inheritance HP:0000006
9 microcephaly HP:0000252
10 downslanted palpebral fissures HP:0000494
11 intellectual disability HP:0001249
12 seizures HP:0001250
13 muscular hypotonia HP:0001252
14 hyporeflexia HP:0001265
15 gait disturbance HP:0001288
16 pachygyria HP:0001302
17 plagiocephaly HP:0001357
18 focal seizures HP:0007359
19 prominent forehead HP:0011220

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, Autosomal Dominant 13

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 13

Genetic Tests for Mental Retardation, Autosomal Dominant 13

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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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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 13:

63
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:

7
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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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
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Sources for Mental Retardation, Autosomal Dominant 13

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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