Details of Disease

General Information of Disease (ID: DIS2N5V6)

Disease Name Torsion dystonia 6
Synonyms
dystonia 6; torsion dystonia adult onset mixed type; primary dystonia, DYT6 type; adolescent-onset dystonia of mixed type; dystonia 6, torsion; torsion dystonia, adult-onset, mixed type; generalised cervical and upper-limb-onset dystonia; torsion dystonia type 6; generalized isolated dystonia caused by mutation in THAP1; THAP1 generalized isolated dystonia; THAP1 generalised isolated dystonia; DYT6; DYT-THAP1; generalised isolated dystonia caused by mutation in THAP1; idiopathic torsion dystonia of mixed type; generalized cervical and upper-limb-onset dystonia
Definition Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Disease Hierarchy
DISQOYF5: Generalized myasthenia gravis
DIS2N5V6: Torsion dystonia 6
Disease Identifiers
MONDO ID
MONDO_0011264
MESH ID
C538003
UMLS CUI
C1414216
OMIM ID
602629
MedGen ID
236274
Orphanet ID
98806
SNOMED CT ID
702448007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAL OTESDTEU Strong Biomarker [1]
THAP1 OTIWUSON Strong Autosomal dominant [2]
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References

1 Inherited isolated dystonia: clinical genetics and gene function.Neurotherapeutics. 2014 Oct;11(4):807-16. doi: 10.1007/s13311-014-0297-7.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.