DYT17
MCID: DYS184
MIFTS: 19

Dystonia 17, Torsion, Autosomal Recessive (DYT17)

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

Aliases & Classifications for Dystonia 17, Torsion, Autosomal Recessive

MalaCards integrated aliases for Dystonia 17, Torsion, Autosomal Recessive:

Name: Dystonia 17, Torsion, Autosomal Recessive 57 70
Dystonia-17, Primary Torsion 57 13
Primary Dystonia, Dyt17 Type 58
Dyt17 57

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt17 type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in teenage years
begins as focal dystonia, later becomes segmental or generalized


HPO:

31
dystonia 17, torsion, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 612406
OMIM Phenotypic Series 57 PS128100
ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA370103
MedGen 41 C2676281
UMLS 70 C2676281

Summaries for Dystonia 17, Torsion, Autosomal Recessive

MalaCards based summary : Dystonia 17, Torsion, Autosomal Recessive, also known as dystonia-17, primary torsion, is related to dystonia and movement disease, and has symptoms including torticollis An important gene associated with Dystonia 17, Torsion, Autosomal Recessive is DYT17 (Dystonia 17). Related phenotypes are dysarthria and dysphonia

More information from OMIM: 612406 PS128100

Related Diseases for Dystonia 17, Torsion, Autosomal Recessive

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 17, Torsion, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 11.1
2 movement disease 9.9

Symptoms & Phenotypes for Dystonia 17, Torsion, Autosomal Recessive

Human phenotypes related to Dystonia 17, Torsion, Autosomal Recessive:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysphonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001618
3 generalized dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007325
4 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
5 cerebral cortical atrophy 58 Excluded (0%)
6 parkinsonism 58 Excluded (0%)
7 craniofacial dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
dysphonia
dystonia, progressive

Head And Neck Neck:
torticollis

Clinical features from OMIM®:

612406 (Updated 20-May-2021)

UMLS symptoms related to Dystonia 17, Torsion, Autosomal Recessive:


torticollis

Drugs & Therapeutics for Dystonia 17, Torsion, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Dystonia 17, Torsion, Autosomal Recessive

Genetic Tests for Dystonia 17, Torsion, Autosomal Recessive

Anatomical Context for Dystonia 17, Torsion, Autosomal Recessive

Publications for Dystonia 17, Torsion, Autosomal Recessive

Articles related to Dystonia 17, Torsion, Autosomal Recessive:

# Title Authors PMID Year
1
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. 61 57
18688663 2008
2
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
3
Genetics of primary torsion dystonia. 61
20425035 2010
4
[Genetics of dystonia]. 61
19685389 2009
5
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 61
19345148 2009

Variations for Dystonia 17, Torsion, Autosomal Recessive

Expression for Dystonia 17, Torsion, Autosomal Recessive

Search GEO for disease gene expression data for Dystonia 17, Torsion, Autosomal Recessive.

Pathways for Dystonia 17, Torsion, Autosomal Recessive

GO Terms for Dystonia 17, Torsion, Autosomal Recessive

Sources for Dystonia 17, Torsion, Autosomal Recessive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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