DYT17
MCID: DYS184
MIFTS: 18

Dystonia 17, Torsion, Autosomal Recessive (DYT17)

Categories: Genetic 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 58 74
Dystonia-17, Primary Torsion 58 13
Primary Dystonia, Dyt17 Type 60
Dyt17 58

Characteristics:

Orphanet epidemiological data:

60
primary dystonia, dyt17 type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
dystonia 17, torsion, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 612406
ICD10 via Orphanet 35 G24.1
Orphanet 60 ORPHA370103
MedGen 43 C2676281
UMLS 74 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 cone-rod dystrophy and hearing loss 2, 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

Description from OMIM: 612406

Related Diseases for Dystonia 17, Torsion, Autosomal Recessive

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

# Related Disease Score Top Affiliating Genes
1 dystonia 11.6
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Dystonia 17, Torsion, Autosomal Recessive

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

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 dysphonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001618
3 generalized dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007325
4 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
5 cerebral cortical atrophy 60 Excluded (0%)
6 parkinsonism 60 Excluded (0%)
7 craniofacial dystonia 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
dysphonia
dystonia, progressive

Head And Neck Neck:
torticollis

Clinical features from OMIM:

612406

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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