MCID: MNT143
MIFTS: 26

Mental Retardation, Autosomal Dominant 13

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 13:

Name: Mental Retardation, Autosomal Dominant 13 57 75 29 13 6 73
Mrd13 57 12 75
Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects 57 12
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 75
Autosomal Dominant Non-Syndromic Intellectual Disability 13 12
Mental Retardation, Autosomal Dominant, Type 13 40
Autosomal Dominant Mental Retardation 13 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 75 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, also known as mrd13, is related to charcot-marie-tooth disease, axonal, type 2o. An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Related phenotypes are intellectual disability and muscular hypotonia

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31.

OMIM : 57 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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

Diseases related to Mental Retardation, Autosomal Dominant 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2o 9.0 DYNC1H1 LOC107984661

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 gait disturbance 32 HP:0001288
4 abnormal facial shape 32 occasional (7.5%) HP:0001999
5 microcephaly 32 occasional (7.5%) HP:0000252
6 spastic tetraplegia 32 very rare (1%) HP:0002510
7 prominent forehead 32 HP:0011220
8 abnormality of the foot 32 occasional (7.5%) HP:0001760
9 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
10 small hand 32 occasional (7.5%) 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 occasional (7.5%) HP:0002079
17 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
18 hypoplasia of the brainstem 32 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 29 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:

75
# 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 36)
# 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.11465A> C (p.His3822Pro) single nucleotide variant Pathogenic rs387906739 GRCh38 Chromosome 14, 102039416: 102039416
3 DYNC1H1 NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 GRCh37 Chromosome 14, 102468883: 102468883
4 DYNC1H1 NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 GRCh38 Chromosome 14, 102002546: 102002546
5 DYNC1H1 NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 GRCh37 Chromosome 14, 102498733: 102498733
6 DYNC1H1 NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 GRCh38 Chromosome 14, 102032396: 102032396
7 DYNC1H1 NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 GRCh37 Chromosome 14, 102499473: 102499473
8 DYNC1H1 NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 GRCh38 Chromosome 14, 102033136: 102033136
9 DYNC1H1 NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 GRCh37 Chromosome 14, 102498756: 102498756
10 DYNC1H1 NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 GRCh38 Chromosome 14, 102032419: 102032419
11 DYNC1H1 NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 GRCh37 Chromosome 14, 102463410: 102463410
12 DYNC1H1 NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 GRCh38 Chromosome 14, 101997073: 101997073
13 DYNC1H1 NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Likely pathogenic rs797045177 GRCh37 Chromosome 14, 102446852: 102446852
14 DYNC1H1 NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Likely pathogenic rs797045177 GRCh38 Chromosome 14, 101980515: 101980515
15 DYNC1H1 NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 GRCh38 Chromosome 14, 101985931: 101985931
16 DYNC1H1 NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 GRCh37 Chromosome 14, 102452268: 102452268
17 DYNC1H1 NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 GRCh37 Chromosome 14, 102505162: 102505162
18 DYNC1H1 NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 GRCh38 Chromosome 14, 102038825: 102038825
19 DYNC1H1 NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 GRCh38 Chromosome 14, 102002694: 102002694
20 DYNC1H1 NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 GRCh37 Chromosome 14, 102469031: 102469031
21 DYNC1H1 NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 GRCh37 Chromosome 14, 102500472: 102500472
22 DYNC1H1 NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 GRCh38 Chromosome 14, 102034135: 102034135
23 DYNC1H1 NM_001376.4(DYNC1H1): c.12332A> G (p.Lys4111Arg) single nucleotide variant Uncertain significance rs1060499574 GRCh38 Chromosome 14, 102042440: 102042440
24 DYNC1H1 NM_001376.4(DYNC1H1): c.12332A> G (p.Lys4111Arg) single nucleotide variant Uncertain significance rs1060499574 GRCh37 Chromosome 14, 102508777: 102508777
25 DYNC1H1 NM_001376.4(DYNC1H1): c.4868G> A (p.Arg1623Gln) single nucleotide variant Likely pathogenic rs1064796765 GRCh38 Chromosome 14, 102002950: 102002950
26 DYNC1H1 NM_001376.4(DYNC1H1): c.4868G> A (p.Arg1623Gln) single nucleotide variant Likely pathogenic rs1064796765 GRCh37 Chromosome 14, 102469287: 102469287
27 DYNC1H1 NM_001376.4(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 102476324: 102476324
28 DYNC1H1 NM_001376.4(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102009987: 102009987
29 DYNC1H1 NM_001376.4(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 102498684: 102498684
30 DYNC1H1 NM_001376.4(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102032347: 102032347
31 DYNC1H1 NM_001376.4(DYNC1H1): c.10172C> T (p.Pro3391Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 102499494: 102499494
32 DYNC1H1 NM_001376.4(DYNC1H1): c.10172C> T (p.Pro3391Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102033157: 102033157
33 DYNC1H1 NM_001376.4(DYNC1H1): c.10280A> C (p.Gln3427Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 102499688: 102499688
34 DYNC1H1 NM_001376.4(DYNC1H1): c.10280A> C (p.Gln3427Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 102033351: 102033351
35 DYNC1H1 NM_001376.4(DYNC1H1): c.4042G> A (p.Glu1348Lys) single nucleotide variant Likely pathogenic rs1047509819 GRCh38 Chromosome 14, 102000367: 102000367
36 DYNC1H1 NM_001376.4(DYNC1H1): c.4042G> A (p.Glu1348Lys) single nucleotide variant Likely pathogenic rs1047509819 GRCh37 Chromosome 14, 102466704: 102466704

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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