MCID: MNT143
MIFTS: 23

Mental Retardation, Autosomal Dominant 13

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Skin diseases, Eye diseases, Metabolic diseases, Bone diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 13:

Name: Mental Retardation, Autosomal Dominant 13 53 71 28 13 69
Mrd13 53 71
Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects 53
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
most patients have de novo mutations
dysmorphic features are mild or variable


HPO:

31
mental retardation, autosomal dominant 13:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 71 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 : 53 MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013). (614563)

Related Diseases for Mental Retardation, Autosomal Dominant 13

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
focal seizures
mental retardation (in some patients)
abnormal gait
cerebellar hypoplasia (in some patients)
thin corpus callosum (in some patients)
more
Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
axonal neuropathy (in some patients)

Skeletal Feet:
foot deformities (in some patients)

Skeletal Hands:
small hands (in some patients)

Head And Neck Head:
microcephaly (in some patients)
prominent forehead (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Head And Neck Face:
facial dysmorphism, mild (in some patients)


Clinical features from OMIM:

614563

Human phenotypes related to Mental Retardation, Autosomal Dominant 13:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability 31 HP:0001249
3 muscular hypotonia 31 HP:0001252
4 gait disturbance 31 HP:0001288
5 abnormal facial shape 31 occasional (7.5%) HP:0001999
6 microcephaly 31 HP:0000252
7 spastic tetraplegia 31 very rare (1%) HP:0002510
8 prominent forehead 31 HP:0011220
9 abnormality of the foot 31 occasional (7.5%) HP:0001760
10 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
11 small hand 31 occasional (7.5%) HP:0200055
12 downslanted palpebral fissures 31 HP:0000494
13 hyporeflexia 31 HP:0001265
14 focal seizures 31 HP:0007359
15 pachygyria 31 HP:0001302
16 plagiocephaly 31 HP:0001357
17 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
18 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
19 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 13 28 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:

71
# 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 rs879253881
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 13)
# 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
12 DYNC1H1 NM_001376.4(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102009987: 102009987
13 DYNC1H1 NM_001376.4(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102032347: 102032347

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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