MCID: DYS185
MIFTS: 22

Dystonia 13, Torsion, Autosomal Dominant

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Muscle 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 73
Dyt13 57 59
Primary Torsion Dystonia with Predominant Craniocervical or Upper Limb Onset 59
Primary Dystonia with Mixed Phenotype 59
Primary Dystonia, Dyt13 Type 59
Torsion Dystonia 13 12

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt13 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
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:

32
dystonia 13, torsion, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607671
Disease Ontology 12 DOID:0090037
ICD10 33 G24.1 G24.9
Orphanet 59 ORPHA98807
UMLS via Orphanet 74 C1843264
ICD10 via Orphanet 34 G24.1
MedGen 42 C1843264
UMLS 73 C1843264

Summaries for Dystonia 13, Torsion, Autosomal Dominant

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of focal or segmental dystonia with cranial, cervical, or upper limb involvement that has material basis in 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 cervicitis, and has symptoms including dystonia, torticollis and tremor. An important gene associated with Dystonia 13, Torsion, Autosomal Dominant is DYT13 (Dystonia 13, Torsion). Related phenotypes are hoarse voice and generalized dystonia

Description from OMIM: 607671

Related Diseases for Dystonia 13, Torsion, Autosomal Dominant

Diseases in the Dystonia 7, Torsion family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Torsion Dystonia with Onset in Infancy
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 10.2
2 cervicitis 10.1

Symptoms & Phenotypes for Dystonia 13, Torsion, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
writer's cramp
torsion dystonia
cranial dystonia
dystonic posturing
more
Head And Neck Mouth:
oromandibular dystonia

Skeletal Limbs:
upper limb dystonia

Head And Neck Eyes:
blepharospasm

Head And Neck Neck:
torticollis


Clinical features from OMIM:

607671

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

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hoarse voice 59 32 very rare (1%) Very rare (<4-1%) HP:0001609
2 generalized dystonia 59 32 very rare (1%) Very rare (<4-1%) HP:0007325
3 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
4 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
5 torsion dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001304
6 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
7 limb dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002451
8 jerky head movements 59 32 frequent (33%) Frequent (79-30%) HP:0006961
9 postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002174
10 focal dystonia 59 Occasional (29-5%)
11 involuntary movements 59 Very frequent (99-80%)
12 dystonia 59 Frequent (79-30%)
13 craniofacial dystonia 59 Frequent (79-30%)
14 action tremor 59 Occasional (29-5%)
15 blepharospasm 32 HP:0000643
16 tremor 32 HP:0001337
17 writer's cramp 32 HP:0002356
18 oromandibular dystonia 32 HP:0012048

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


dystonia, torticollis, tremor

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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