Details of Disease | DrugMAP

General Information of Disease (ID: DISLJQWF)

Disease Name	Dystonia 27
Synonyms	primary dystonia, DYT27 type; DYT27; dystonia 27; COL6A3 dystonic disorder; dystonic disorder caused by mutation in COL6A3; dystonia type 27
Definition	Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
Disease Hierarchy	DISEIJV9: Inherited dystonia DISOACMU: Segmental dystonia DISICOLI: Focal, segmental or multifocal dystonia DISLJQWF: Dystonia 27
Disease Identifiers	MONDO ID MONDO_0014627 UMLS CUI C4225336 OMIM ID 616411 MedGen ID 907580 Orphanet ID 464440 SNOMED CT ID 1220573009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL6A3	TT5WCAH	Strong	Autosomal recessive	[1]
COL6A3	TT5WCAH	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL6A3	OTAS6R6I	Strong	Autosomal recessive	[1]
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References

1	Recessive mutations in the 3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21.
2	Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).Parkinsonism Relat Disord. 2018 Jan;46:74-78. doi: 10.1016/j.parkreldis.2017.10.008. Epub 2017 Oct 14.