DYT13
MCID: DYS185
MIFTS: 24

Dystonia 13, Torsion, Autosomal Dominant (DYT13)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 13, Torsion, Autosomal Dominant

MalaCards integrated aliases for Dystonia 13, Torsion, Autosomal Dominant:

Name: Dystonia 13, Torsion, Autosomal Dominant 57
Dystonia 13, Torsion 57 13 70
Dyt13 57 58
Primary Torsion Dystonia with Predominant Craniocervical or Upper Limb Onset 58
Primary Dystonia with Mixed Phenotype 58
Primary Dystonia, Dyt13 Type 58
Torsion Dystonia 13 12

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt13 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 15 years (range 4 to 40)
focal or segmental onset in cranial-cervical area or upper limbs
may progress to other body regions after many years
dopa-unresponsive
relatively mild course


HPO:

31
dystonia 13, torsion, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090037
OMIM® 57 607671
OMIM Phenotypic Series 57 PS128100
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 71 C1843264
Orphanet 58 ORPHA98807
MedGen 41 C1843264
UMLS 70 C1843264

Summaries for Dystonia 13, Torsion, Autosomal Dominant

Disease Ontology : 12 A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has material basis in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13.

MalaCards based summary : Dystonia 13, Torsion, Autosomal Dominant, also known as dystonia 13, torsion, is related to dystonia and dystonia 1, torsion, autosomal dominant, and has symptoms including tremor, dystonia and torticollis. An important gene associated with Dystonia 13, Torsion, Autosomal Dominant is DYT13 (Dystonia 13, Torsion). Related phenotypes are stereotypy and torticollis

More information from OMIM: 607671 PS128100

Related Diseases for Dystonia 13, Torsion, Autosomal Dominant

Diseases in the Torsion Dystonia with Onset in Infancy family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Dystonia 7, Torsion
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

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

# Related Disease Score Top Affiliating Genes
1 dystonia 11.2
2 dystonia 1, torsion, autosomal dominant 10.1
3 dystonia 7, torsion 10.1
4 movement disease 10.1
5 dystonia 12 9.9
6 cervical dystonia 9.9
7 dyt1 early-onset isolated dystonia 9.9

Graphical network of the top 20 diseases related to Dystonia 13, Torsion, Autosomal Dominant:



Diseases related to Dystonia 13, Torsion, Autosomal Dominant

Symptoms & Phenotypes for Dystonia 13, Torsion, Autosomal Dominant

Human phenotypes related to Dystonia 13, Torsion, Autosomal Dominant:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
2 torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000473
3 torsion dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001304
4 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
5 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
6 jerky head movements 58 31 frequent (33%) Frequent (79-30%) HP:0006961
7 postural tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002174
8 hoarse voice 58 31 very rare (1%) Very rare (<4-1%) HP:0001609
9 generalized dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0007325
10 tremor 31 HP:0001337
11 involuntary movements 58 Very frequent (99-80%)
12 dystonia 58 Frequent (79-30%)
13 blepharospasm 31 HP:0000643
14 writer's cramp 31 HP:0002356
15 craniofacial dystonia 58 Frequent (79-30%)
16 action tremor 58 Occasional (29-5%)
17 focal dystonia 58 Occasional (29-5%)
18 oromandibular dystonia 31 HP:0012048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
tremor
torsion dystonia
writer's cramp
cranial dystonia
dystonic posturing
more
Head And Neck Neck:
torticollis

Skeletal Limbs:
upper limb dystonia

Head And Neck Eyes:
blepharospasm

Head And Neck Mouth:
oromandibular dystonia

Clinical features from OMIM®:

607671 (Updated 05-Apr-2021)

UMLS symptoms related to Dystonia 13, Torsion, Autosomal Dominant:


tremor; dystonia; torticollis

Drugs & Therapeutics for Dystonia 13, Torsion, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Dystonia 13, Torsion, Autosomal Dominant

Genetic Tests for Dystonia 13, Torsion, Autosomal Dominant

Anatomical Context for Dystonia 13, Torsion, Autosomal Dominant

Publications for Dystonia 13, Torsion, Autosomal Dominant

Articles related to Dystonia 13, Torsion, Autosomal Dominant:

(show all 17)
# Title Authors PMID Year
1
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. 61 57
11261511 2001
2
Non-DYT1 dystonia in a large Italian family. 57
9120448 1997
3
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
4
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 61
21956287 2011
5
[Genetics of dystonia]. 61
19685389 2009
6
Clinical and genetic characterization of a large Dutch family with primary focal dystonia. 61
18823044 2008
7
Three brothers with a very-late-onset writer's cramp. 61
15954129 2005
8
Clinical and genetic evaluation in a French population presenting with primary focal dystonia. 61
15726581 2005
9
Phenotypic characterization of DYT13 primary torsion dystonia. 61
14978677 2004
10
Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. 61
14509662 2004
11
Dystonia: phenotypes and genotypes. 61
14628853 2003
12
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 61
12539217 2003
13
Classification and genetics of dystonia. 61
12849429 2002
14
Dystonia: clinical features, genetics, and treatment. 61
12151848 2002
15
The genetics of primary dystonias and related disorders. 61
11912106 2002
16
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 61
11921130 2002
17
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 61
11487218 2001

Variations for Dystonia 13, Torsion, Autosomal Dominant

Expression for Dystonia 13, Torsion, Autosomal Dominant

Search GEO for disease gene expression data for Dystonia 13, Torsion, Autosomal Dominant.

Pathways for Dystonia 13, Torsion, Autosomal Dominant

GO Terms for Dystonia 13, Torsion, Autosomal Dominant

Sources for Dystonia 13, Torsion, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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