Details of Disease

General Information of Disease (ID: DISNX38R)

• Disease Name: Dystonia 12
• Synonyms: RDP; rapid-onset dystonia-parkinsonism; dystonia-Parkinsonism, rapid-onset; DYT-ATP1A3; DYT12; ATP1A3 dystonic disorder; dystonia 12; dystonia-12; dystonic disorder caused by mutation in ATP1A3; dystonia type 12
• Definition: Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.
• Disease Hierarchy:
  DISHGY45: Parkinsonian disorder
  DISEIJV9: Inherited dystonia
  DISRW48Z: ATP1A3-associated neurological disorder
  DISD44TL: Combined dystonia
  DISNX38R: Dystonia 12
• Disease Identifiers:
  MONDO ID: MONDO_0007496
  MESH ID: C538001
  UMLS CUI: C1868681
  OMIM ID: 128235
  MedGen ID: 358384
  Orphanet ID: 71517
  SNOMED CT ID: 702323008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GCH1	TTLSWP6	Strong	Biomarker	[1]
TOR1A	TTF85KW	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A3	OTM8EG6H	Strong	Autosomal dominant	[3]
PNKD	OT6G9UXN	Strong	Biomarker	[4]
PRKRA	OTUTVZZU	Strong	Genetic Variation	[5]

References

• [1] Genetics of dystonia: an overview.Parkinsonism Relat Disord. 2007;13 Suppl 3:S347-55. doi: 10.1016/S1353-8020(08)70029-4.
• [2] A novel family with an unusual early-onset generalized dystonia.Mov Disord. 2005 Jan;20(1):81-6. doi: 10.1002/mds.20267.
• [3] 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.
• [4] Genetics of primary dystonia.Semin Neurol. 1999;19(3):271-80. doi: 10.1055/s-2008-1040843.
• [5] Rare causes of dystonia parkinsonism.Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0.