Details of Disease | DrugMAP

General Information of Disease (ID: DIS0KL38)

Disease Name	Dystonia 9
Synonyms	paroxysmal dystonic choreathetosis with episodic ataxia and spasticity; Cse choreoathetosis, paroxysmal, with episodic ataxia; choreoathetosis/spasticity, episodic; choreoathetosis, kinesigenic, with episodic ataxia and spasticity; DYT9; episodic choreoathetosis/spasticity; dystonia type 9; dystonia 9
Definition	A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
Disease Hierarchy	DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption DISV0MSQ: Paroxysmal dystonia DIS0KL38: Dystonia 9
Disease Identifiers	MONDO ID MONDO_0010983 MESH ID C563401 UMLS CUI C1832855 OMIM ID 601042 MedGen ID 371427 Orphanet ID 53583 SNOMED CT ID 715564000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	TT79TKF	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	DTG3T6X	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	OTA675TJ	Strong	Autosomal dominant	[2]
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References

1	A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.Eur J Med Genet. 2016 Nov;59(11):564-568. doi: 10.1016/j.ejmg.2016.10.003. Epub 2016 Oct 8.
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.