MCID: DYS184
MIFTS: 17

Dystonia 17, Torsion, Autosomal Recessive

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Muscle 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 73
Dystonia-17, Primary Torsion 57 13
Primary Dystonia, Dyt17 Type 59
Dyt17 57

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt17 type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
dystonia 17, torsion, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 612406
Orphanet 59 ORPHA370103
ICD10 via Orphanet 34 G24.1
MedGen 42 C2676281
UMLS 73 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 has symptoms including torticollis An important gene associated with Dystonia 17, Torsion, Autosomal Recessive is DYT17 (Dystonia 17). Related phenotypes are torticollis and dysarthria

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 10.0

Symptoms & Phenotypes for Dystonia 17, Torsion, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
dystonia, progressive
dysphonia
dysarthria


Clinical features from OMIM:

612406

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

32
# Description HPO Frequency HPO Source Accession
1 torticollis 32 HP:0000473
2 dysarthria 32 HP:0001260
3 dysphonia 32 HP:0001618

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 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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