MRD13
MCID: MNT143
MIFTS: 38

Mental Retardation, Autosomal Dominant 13 (MRD13)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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 74 29 13 6 72
Mrd13 57 12 74
Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects 57 12
Autosomal Dominant Non-Syndromic Intellectual Disability 13 12 15
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 74
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:



External Ids:

Disease Ontology 12 DOID:0070043
MeSH 44 D008607
MedGen 42 C3281202
UMLS 72 C3281202

Summaries for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 74 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 and chromosome 15q24 deletion syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. Related phenotypes are abnormal facial shape and microcephaly

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 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 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 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

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 10.0 LOC107984661 DYNC1H1
2 chromosome 15q24 deletion syndrome 9.9 SIN3A DYNC1H1
3 autosomal dominant non-syndromic intellectual disability 9.3 SAP18 DYNC1H1

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

Human phenotypes related to Mental Retardation, Autosomal Dominant 13:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 32 occasional (7.5%) HP:0001999
2 microcephaly 32 occasional (7.5%) HP:0000252
3 abnormality of the foot 32 occasional (7.5%) HP:0001760
4 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
5 small hand 32 occasional (7.5%) HP:0200055
6 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
7 peripheral axonal neuropathy 32 occasional (7.5%) HP:0003477
8 hypoplasia of the brainstem 32 occasional (7.5%) HP:0002365
9 spastic tetraplegia 32 very rare (1%) HP:0002510
10 intellectual disability 32 HP:0001249
11 muscular hypotonia 32 HP:0001252
12 gait disturbance 32 HP:0001288
13 prominent forehead 32 HP:0011220
14 downslanted palpebral fissures 32 HP:0000494
15 focal-onset seizure 32 HP:0007359
16 hyporeflexia 32 HP:0001265
17 plagiocephaly 32 HP:0001357
18 pachygyria 32 HP:0001302

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation (in some patients)
abnormal gait
cerebellar hypoplasia (in some patients)
thin corpus callosum (in some patients)
seizures, generalized
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

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased TP53 mRNA expression GR00389-S-6 8.62 HDAC1 SIN3A

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

Articles related to Mental Retardation, Autosomal Dominant 13:

# Title Authors PMID Year
1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 8 71
23603762 2013
2
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. 8 71
22368300 2012
3
A de novo paradigm for mental retardation. 8 71
21076407 2010
4
Somatic mutations in cerebral cortical malformations. 8
25140959 2014
5
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. 8
21820100 2011
6
Neuronal migration defects in the Loa dynein mutant mouse. 8
21612657 2011

Variations for Mental Retardation, Autosomal Dominant 13

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

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DYNC1H1 NM_001376.5(DYNC1H1): c.11465A> C (p.His3822Pro) single nucleotide variant Pathogenic rs387906739 14:102505753-102505753 14:102039416-102039416
2 DYNC1H1 NM_001376.5(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 14:102468883-102468883 14:102002546-102002546
3 DYNC1H1 NM_001376.5(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 14:102498733-102498733 14:102032396-102032396
4 DYNC1H1 NM_001376.5(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 14:102499473-102499473 14:102033136-102033136
5 DYNC1H1 NM_001376.5(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 14:102498756-102498756 14:102032419-102032419
6 DYNC1H1 NM_001376.5(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 14:102463410-102463410 14:101997073-101997073
7 DYNC1H1 NM_001376.5(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 14:102452268-102452268 14:101985931-101985931
8 DYNC1H1 NM_001376.5(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 14:102500472-102500472 14:102034135-102034135
9 DYNC1H1 NM_001376.5(DYNC1H1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780564 14:102452354-102452354 14:101986017-101986017
10 DYNC1H1 NM_001376.5(DYNC1H1): c.4868G> A (p.Arg1623Gln) single nucleotide variant Likely pathogenic rs1064796765 14:102469287-102469287 14:102002950-102002950
11 DYNC1H1 NM_001376.5(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic rs1555409836 14:102476324-102476324 14:102009987-102009987
12 DYNC1H1 NM_001376.5(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic rs1555411305 14:102498684-102498684 14:102032347-102032347
13 DYNC1H1 NM_001376.5(DYNC1H1): c.10172C> T (p.Pro3391Leu) single nucleotide variant Likely pathogenic rs1555411378 14:102499494-102499494 14:102033157-102033157
14 DYNC1H1 NM_001376.5(DYNC1H1): c.10280A> C (p.Gln3427Pro) single nucleotide variant Likely pathogenic rs1555411394 14:102499688-102499688 14:102033351-102033351
15 DYNC1H1 NM_001376.5(DYNC1H1): c.4042G> A (p.Glu1348Lys) single nucleotide variant Likely pathogenic rs1047509819 14:102466704-102466704 14:102000367-102000367
16 DYNC1H1 NM_001376.5(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 14:102505162-102505162 14:102038825-102038825
17 DYNC1H1 NM_001376.5(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 14:102469031-102469031 14:102002694-102002694
18 DYNC1H1 NM_001376.5(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Likely pathogenic rs797045177 14:102446852-102446852 14:101980515-101980515
19 DYNC1H1 NM_001376.5(DYNC1H1): c.5885G> A (p.Arg1962His) single nucleotide variant Likely pathogenic rs1057518287 14:102474582-102474582 14:102008245-102008245
20 DYNC1H1 NM_001376.5(DYNC1H1): c.5985C> T (p.Ala1995=) single nucleotide variant Conflicting interpretations of pathogenicity rs140841480 14:102476187-102476187 14:102009850-102009850
21 DYNC1H1 NM_001376.5(DYNC1H1): c.7918G> A (p.Glu2640Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs797045535 14:102483494-102483494 14:102017157-102017157
22 DYNC1H1 NM_001376.5(DYNC1H1): c.2376C> T (p.Cys792=) single nucleotide variant Conflicting interpretations of pathogenicity rs35092963 14:102452938-102452938 14:101986601-101986601
23 DYNC1H1 NM_001376.5(DYNC1H1): c.3073C> T (p.Arg1025Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs777387819 14:102460578-102460578 14:101994241-101994241
24 DYNC1H1 NM_001376.5(DYNC1H1): c.13414G> A (p.Gly4472Ser) single nucleotide variant Uncertain significance rs199692678 14:102515818-102515818 14:102049481-102049481
25 DYNC1H1 NM_001376.5(DYNC1H1): c.13873G> A (p.Glu4625Lys) single nucleotide variant Uncertain significance rs200149883 14:102516832-102516832 14:102050495-102050495
26 DYNC1H1 NM_001376.5(DYNC1H1): c.10354G> A (p.Ala3452Thr) single nucleotide variant Uncertain significance rs1555411400 14:102499762-102499762 14:102033425-102033425
27 DYNC1H1 NM_001376.5(DYNC1H1): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance 14:102452106-102452106 14:101985769-101985769
28 DYNC1H1 NM_001376.5(DYNC1H1): c.4808G> C (p.Arg1603Thr) single nucleotide variant Uncertain significance 14:102469227-102469227 14:102002890-102002890
29 DYNC1H1 NM_001376.5(DYNC1H1): c.9193G> A (p.Val3065Met) single nucleotide variant Uncertain significance rs377668381 14:102494100-102494100 14:102027763-102027763
30 DYNC1H1 NM_001376.5(DYNC1H1): c.12332A> G (p.Lys4111Arg) single nucleotide variant Uncertain significance rs1060499574 14:102508777-102508777 14:102042440-102042440
31 DYNC1H1 NM_001376.5(DYNC1H1): c.9607G> A (p.Val3203Met) single nucleotide variant Uncertain significance 14:102496014-102496014 14:102029677-102029677
32 DYNC1H1 NM_001376.5(DYNC1H1): c.915A> G (p.Lys305=) single nucleotide variant Uncertain significance 14:102446841-102446841 14:101980504-101980504
33 DYNC1H1 NM_001376.5(DYNC1H1): c.11806G> A (p.Val3936Met) single nucleotide variant Uncertain significance 14:102506688-102506688 14:102040351-102040351
34 DYNC1H1 NM_001376.5(DYNC1H1): c.12084C> G (p.Thr4028=) single nucleotide variant Uncertain significance 14:102508053-102508053 14:102041716-102041716
35 DYNC1H1 NM_001376.5(DYNC1H1): c.12192G> A (p.Thr4064=) single nucleotide variant Uncertain significance 14:102508439-102508439 14:102042102-102042102
36 DYNC1H1 NM_001376.5(DYNC1H1): c.13483G> A (p.Ala4495Thr) single nucleotide variant Uncertain significance 14:102515887-102515887 14:102049550-102049550
37 DYNC1H1 NM_001376.5(DYNC1H1): c.13497T> C (p.Gly4499=) single nucleotide variant Uncertain significance 14:102515901-102515901 14:102049564-102049564

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

74
# 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

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

Pathways related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 TBP SIN3A SAP18 HDAC1 GTF2B
2
Show member pathways
12.58 TBP SIN3A SAP18 HDAC1 GTF2B
3 11.91 TBP HDAC1 GTF2B
4
Show member pathways
11.81 SIN3A SAP18 HDAC1
5 11.66 TBP SIN3A HDAC1 GTF2B
6 11.53 SIN3A HDAC1
7 11.5 SIN3A HDAC1
8 11.45 TBP HDAC1
9 11.43 SIN3A SAP18 HDAC1
10 11.32 SIN3A HDAC1
11 11.3 TBP HDAC1
12 11.25 SIN3A SAP18 HDAC1
13 11.24 TBP HDAC1
14 11.15 SIN3A SAP18 HDAC1
15 11.02 SIN3A HDAC1
16 10.85 TBP GTF2B
17
Show member pathways
10.52 SIN3A SAP18 HDAC1

GO Terms for Mental Retardation, Autosomal Dominant 13

Cellular components related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 9.37 SIN3A HDAC1
2 transcription factor complex GO:0005667 9.33 TBP SIN3A HDAC1
3 transcription factor TFIID complex GO:0005669 9.32 TBP GTF2B
4 histone deacetylase complex GO:0000118 9.26 SAP18 HDAC1
5 Sin3 complex GO:0016580 8.96 SIN3A HDAC1
6 transcriptional preinitiation complex GO:0097550 8.62 TBP GTF2B

Biological processes related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 snRNA transcription by RNA polymerase II GO:0042795 9.37 TBP GTF2B
2 regulation of megakaryocyte differentiation GO:0045652 9.32 SIN3A HDAC1
3 negative regulation of nucleic acid-templated transcription GO:1903507 9.26 SIN3A SAP18
4 RNA polymerase II preinitiation complex assembly GO:0051123 9.16 TBP GTF2B
5 protein deacetylation GO:0006476 8.96 SIN3A HDAC1
6 histone deacetylation GO:0016575 8.62 SIN3A HDAC1

Molecular functions related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 9.58 SIN3A SAP18 HDAC1
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.48 SIN3A HDAC1
3 promoter-specific chromatin binding GO:1990841 9.46 HDAC1 GTF2B
4 transcription factor binding GO:0008134 9.46 TBP SIN3A HDAC1 GTF2B
5 repressing transcription factor binding GO:0070491 9.43 TBP HDAC1
6 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.37 TBP GTF2B
7 core promoter binding GO:0001047 9.32 TBP GTF2B
8 protein deacetylase activity GO:0033558 9.26 SIN3A HDAC1
9 histone deacetylase activity GO:0004407 8.96 SIN3A HDAC1
10 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 TBP SIN3A HDAC1

Sources for Mental Retardation, Autosomal Dominant 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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