Details of Disease

Disease Name

Paroxysmal dystonia

Disease Hierarchy

DISD44TL: Combined dystonia

DISV0MSQ: Paroxysmal dystonia

Disease Identifiers

MONDO ID

MONDO_0016058

MESH ID

D004421

UMLS CUI

C0393588

MedGen ID

97951

HPO ID

HP:0002268

Orphanet ID

200037

SNOMED CT ID

230310003

General Information of Disease (ID: DISV0MSQ)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA4	TT4H1MQ	Limited	Biomarker	[1]
CYP2D6	TTVG215	Strong	Biomarker	[2]
GCH1	TTLSWP6	Strong	Biomarker	[3]
TH	TTUHP71	Strong	Biomarker	[4]
TOR1A	TTF85KW	Strong	Biomarker	[5]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	Strong	Biomarker	[6]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNKD	OT6G9UXN	Limited	Genetic Variation	[7]
SERAC1	OTWH1ULQ	Disputed	Biomarker	[8]
ACTB	OT1MCP2F	Strong	Biomarker	[9]
ATP1A3	OTM8EG6H	Strong	Biomarker	[10]
CIZ1	OT3UKHPI	Strong	Biomarker	[5]
DLAT	OT9LBJVN	Strong	Biomarker	[11]
GNAL	OTESDTEU	Strong	Biomarker	[5]
KMT2B	OTMMAZQX	Strong	Biomarker	[12]
THAP1	OTIWUSON	Strong	Biomarker	[5]
SCP2	OTPAFCPQ	Definitive	Biomarker	[13]
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⏷ Show the Full List of 10 DOT(s)

References

1	Altered fast- and slow-twitch muscle fibre characteristics in female mice with a (S248F) knock-in mutation of the brain neuronal nicotinic acetylcholine receptor.J Muscle Res Cell Motil. 2009;30(1-2):73-83. doi: 10.1007/s10974-009-9177-x. Epub 2009 Apr 29.
2	Acute dystonic reaction to metoclopramide in patients carrying homozygous cytochrome P450 2D6 genetic polymorphisms. Neth J Med. 2006 May;64(5):160-2.
3	Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.Mov Disord. 2004 Oct;19(10):1256-8. doi: 10.1002/mds.20194.
4	Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.Neurology. 2004 Oct 26;63(8):1524-6. doi: 10.1212/01.wnl.0000142083.47927.0a.
5	Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.
6	Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.
7	Genetics of primary dystonia.Semin Neurol. 1999;19(3):271-80. doi: 10.1055/s-2008-1040843.
8	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325.
9	A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21.
10	Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028.
11	Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.Eur J Paediatr Neurol. 2010 Jul;14(4):349-53. doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.
12	Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19.
13	Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet. 2006 Jun;78(6):1046-52. doi: 10.1086/503921. Epub 2006 Mar 29.