MCID: MNT143
MIFTS: 22

Mental Retardation, Autosomal Dominant 13 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 13

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 13:

Name: Mental Retardation, Autosomal Dominant 13 50 23 68 25 12 66
Mrd13 23 68
 
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 68
Mental Retardation, Autosomal Dominant, with Neuronal Migration Defects 23

Characteristics:

HPO:

62
mental retardation, autosomal dominant 13:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614563
MedGen35 C3281202
MeSH37 D008607

Summaries for Mental Retardation, Autosomal Dominant 13

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UniProtKB/Swiss-Prot:68 Mental retardation, autosomal dominant 13: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia.

MalaCards based summary: Mental Retardation, Autosomal Dominant 13, is also known as mrd13, 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).

OMIM:50 MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting... (614563) more...

Related Diseases for Mental Retardation, Autosomal Dominant 13

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Diseases in the Mental Retardation, Autosomal Dominant 13 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 22
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 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

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 18)
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 microcephaly HP:0000252
9 downslanted palpebral fissures HP:0000494
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 muscular hypotonia HP:0001252
13 hyporeflexia HP:0001265
14 gait disturbance HP:0001288
15 pachygyria HP:0001302
16 plagiocephaly HP:0001357
17 focal seizures HP:0007359
18 prominent forehead HP:0011220

UMLS symptoms related to Mental Retardation, Autosomal Dominant 13:


seizures, focal

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

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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 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 1325 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:

68
id Symbol AA change Variation ID SNP ID
1DYNC1H1p.His3822ProVAR_065085rs387906739
2DYNC1H1p.Glu1518LysVAR_067823rs387906740
3DYNC1H1p.Lys129IleVAR_070580
4DYNC1H1p.Arg1567GlnVAR_070582
5DYNC1H1p.Arg1962CysVAR_070583
6DYNC1H1p.Lys3241ThrVAR_070584
7DYNC1H1p.Lys3336AsnVAR_070585rs397509410
8DYNC1H1p.Arg3344GlnVAR_070586rs397509412
9DYNC1H1p.Arg3384GlnVAR_070587rs397509411

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1DYNC1H1NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser)single nucleotide variantPathogenicrs727505393GRCh37Chr 14, 102463410: 102463410
2DYNC1H1NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His)single nucleotide variantLikely pathogenic, Pathogenicrs797045177GRCh37Chr 14, 102446852: 102446852
3DYNC1H1NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro)single nucleotide variantPathogenicrs797045178GRCh38Chr 14, 101985931: 101985931
4DYNC1H1NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro)single nucleotide variantLikely pathogenicrs797045529GRCh38Chr 14, 102038825: 102038825
5DYNC1H1NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu)single nucleotide variantLikely pathogenicrs797044901GRCh38Chr 14, 102002694: 102002694
6DYNC1H1NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys)single nucleotide variantPathogenicrs869312693GRCh38Chr 14, 102034135: 102034135
7DYNC1H1NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro)single nucleotide variantPathogenicrs387906739GRCh37Chr 14, 102505753: 102505753
8DYNC1H1NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys)single nucleotide variantPathogenicrs387906740GRCh37Chr 14, 102468883: 102468883
9DYNC1H1NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn)single nucleotide variantPathogenicrs397509410GRCh37Chr 14, 102498733: 102498733
10DYNC1H1NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln)single nucleotide variantPathogenicrs397509411GRCh37Chr 14, 102499473: 102499473
11DYNC1H1NM_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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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 13

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Sources for Mental Retardation, Autosomal Dominant 13

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet