MRD13
MCID: MNT143
MIFTS: 23

Mental Retardation, Autosomal Dominant 13 (MRD13) 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

Aliases & Descriptions for Mental Retardation, Autosomal Dominant 13:

Name: Mental Retardation, Autosomal Dominant 13 54 24 66 29 13 69
Mrd13 24 66
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 66
Mental Retardation, Autosomal Dominant, with Neuronal Migration Defects 24

Characteristics:

HPO:

32
mental retardation, autosomal dominant 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614563
MedGen 40 C3281202
MeSH 42 D008607

Summaries for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 66 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 seizures, intellectual disability and muscular hypotonia. An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1).

OMIM : 54 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

Diseases in the Mental Retardation, Autosomal Dominant 22 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, 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 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 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

Symptoms by clinical synopsis from OMIM:

614563

Clinical features from OMIM:

614563

Human phenotypes related to Mental Retardation, Autosomal Dominant 13:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 gait disturbance 32 HP:0001288
5 microcephaly 32 HP:0000252
6 spastic tetraplegia 32 HP:0002510
7 prominent forehead 32 HP:0011220
8 abnormality of the foot 32 HP:0001760
9 cerebellar hypoplasia 32 HP:0001321
10 small hand 32 HP:0200055
11 downslanted palpebral fissures 32 HP:0000494
12 hyporeflexia 32 HP:0001265
13 focal seizures 32 HP:0007359
14 pachygyria 32 HP:0001302
15 plagiocephaly 32 HP:0001357
16 hypoplasia of the corpus callosum 32 HP:0002079
17 peripheral axonal neuropathy 32 HP:0003477
18 hypoplasia of the brainstem 32 HP:0002365

UMLS symptoms related to Mental Retardation, Autosomal Dominant 13:


seizures, focal

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 13

Genetic Tests for Mental Retardation, Autosomal Dominant 13

Genetic tests related to Mental Retardation, Autosomal Dominant 13:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 13 29 24 DYNC1H1

Anatomical Context for Mental Retardation, Autosomal Dominant 13

Publications for Mental Retardation, Autosomal Dominant 13

Variations for Mental Retardation, Autosomal Dominant 13

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

66
id Symbol AA change Variation ID SNP ID
1 DYNC1H1 p.His3822Pro VAR_065085 rs387906739
2 DYNC1H1 p.Glu1518Lys VAR_067823 rs387906740
3 DYNC1H1 p.Lys129Ile VAR_070580
4 DYNC1H1 p.Arg1567Gln VAR_070582 rs797044901
5 DYNC1H1 p.Arg1962Cys VAR_070583
6 DYNC1H1 p.Lys3241Thr VAR_070584
7 DYNC1H1 p.Lys3336Asn VAR_070585 rs397509410
8 DYNC1H1 p.Arg3344Gln VAR_070586 rs397509412
9 DYNC1H1 p.Arg3384Gln VAR_070587 rs397509411

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro) single nucleotide variant Pathogenic rs387906739 GRCh37 Chromosome 14, 102505753: 102505753
2 DYNC1H1 NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 GRCh37 Chromosome 14, 102468883: 102468883
3 DYNC1H1 NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 GRCh37 Chromosome 14, 102498733: 102498733
4 DYNC1H1 NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 GRCh37 Chromosome 14, 102499473: 102499473
5 DYNC1H1 NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 GRCh37 Chromosome 14, 102498756: 102498756
6 DYNC1H1 NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 GRCh37 Chromosome 14, 102463410: 102463410
7 DYNC1H1 NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Pathogenic/Likely pathogenic rs797045177 GRCh37 Chromosome 14, 102446852: 102446852
8 DYNC1H1 NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 GRCh38 Chromosome 14, 101985931: 101985931
9 DYNC1H1 NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 GRCh38 Chromosome 14, 102038825: 102038825
10 DYNC1H1 NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 GRCh38 Chromosome 14, 102002694: 102002694
11 DYNC1H1 NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 GRCh37 Chromosome 14, 102500472: 102500472

Expression for Mental Retardation, Autosomal Dominant 13

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 13.

Pathways for Mental Retardation, Autosomal Dominant 13

GO Terms for Mental Retardation, Autosomal Dominant 13

Sources for Mental Retardation, Autosomal Dominant 13

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