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, Nephrological 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 52 24 70 27 12 68
Mrd13 24 70
 
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 70
Mental Retardation, Autosomal Dominant, with Neuronal Migration Defects 24

Characteristics:

HPO:

64
mental retardation, autosomal dominant 13:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614563
MedGen37 C3281202
MeSH39 D008607

Summaries for Mental Retardation, Autosomal Dominant 13

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UniProtKB/Swiss-Prot:70 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:52 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 11 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 dominant 13 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 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 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

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Symptoms by clinical synopsis from OMIM:

614563

Clinical features from OMIM:

614563

Human phenotypes related to Mental Retardation, Autosomal Dominant 13:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 cerebellar hypoplasia64 rare (5%) HP:0001321
2 abnormality of the foot64 rare (5%) HP:0001760
3 hypoplasia of the corpus callosum64 rare (5%) HP:0002079
4 hypoplasia of the brainstem64 rare (5%) HP:0002365
5 peripheral axonal neuropathy64 rare (5%) HP:0003477
6 small hand64 rare (5%) HP:0200055
7 spastic tetraplegia64 3% HP:0002510
8 microcephaly64 HP:0000252
9 downslanted palpebral fissures64 HP:0000494
10 intellectual disability64 HP:0001249
11 seizures64 HP:0001250
12 muscular hypotonia64 HP:0001252
13 hyporeflexia64 HP:0001265
14 gait disturbance64 HP:0001288
15 pachygyria64 HP:0001302
16 plagiocephaly64 HP:0001357
17 focal seizures64 HP:0007359
18 prominent forehead64 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 1327 24 DYNC1H1

Anatomical Context for Mental Retardation, Autosomal Dominant 13

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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:

70
id Symbol AA change Variation ID SNP ID
1DYNC1H1p.His3822ProVAR_065085rs387906739
2DYNC1H1p.Glu1518LysVAR_067823rs387906740
3DYNC1H1p.Lys129IleVAR_070580
4DYNC1H1p.Arg1567GlnVAR_070582rs797044901
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)SNVPathogenicrs727505393GRCh37Chr 14, 102463410: 102463410
2DYNC1H1NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His)SNVLikely pathogenic, Pathogenicrs797045177GRCh37Chr 14, 102446852: 102446852
3DYNC1H1NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro)SNVPathogenicrs797045178GRCh38Chr 14, 101985931: 101985931
4DYNC1H1NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro)SNVLikely pathogenicrs797045529GRCh38Chr 14, 102038825: 102038825
5DYNC1H1NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu)SNVLikely pathogenicrs797044901GRCh38Chr 14, 102002694: 102002694
6DYNC1H1NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys)SNVPathogenicrs869312693GRCh38Chr 14, 102034135: 102034135
7DYNC1H1NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro)SNVPathogenicrs387906739GRCh37Chr 14, 102505753: 102505753
8DYNC1H1NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys)SNVPathogenicrs387906740GRCh37Chr 14, 102468883: 102468883
9DYNC1H1NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn)SNVPathogenicrs397509410GRCh37Chr 14, 102498733: 102498733
10DYNC1H1NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln)SNVPathogenicrs397509411GRCh37Chr 14, 102499473: 102499473
11DYNC1H1NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln)SNVPathogenicrs397509412GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet