MCID: MNT143
MIFTS: 17

Mental Retardation, Autosomal Dominant 13 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Mental Retardation, Autosomal Dominant 13

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OMIM:45 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 45 10 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 614563

Related Diseases for Mental Retardation, Autosomal Dominant 13

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Diseases in the Mental Retardation family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
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 31
Mental Retardation, Autosomal Recessive 46 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 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 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
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 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant, 28

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 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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Variations for Mental Retardation, Autosomal Dominant 13

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UniProtKB/Swiss-Prot 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

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

6
id Gene Variation 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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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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Sources for Mental Retardation, Autosomal Dominant 13

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet