Details of Disease | DrugMAP

General Information of Disease (ID: DIS9RSUT)

Disease Name	Torsion dystonia 2
Synonyms	dystonia 2, torsion, autosomal recessive; torsion dystonia 2, autosomal recessive type; dystonia musculorum deformans type 2; primary dystonia, DYT2 type; dystonia musculorum deformans 2; DYT2; HPCA dystonic disorder; dystonic disorder caused by mutation in HPCA; autosomal recessive torsion dystonia 2; torsion dystonia type 2
Definition	Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
Disease Hierarchy	DISEIJV9: Inherited dystonia DISICOLI: Focal, segmental or multifocal dystonia DIS9RSUT: Torsion dystonia 2
Disease Identifiers	MONDO ID MONDO_0009141 MESH ID C538006 UMLS CUI C1857093 OMIM ID 224500 MedGen ID 346511 Orphanet ID 99657 SNOMED CT ID 715777007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPCA	OTERUPP6	Strong	Autosomal recessive	[1]
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References

1	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.