Details of Disease

General Information of Disease (ID: DIS5TT9O)

Disease Name X-linked dystonia-parkinsonism
Synonyms
X-linked torsion dystonia-Parkinsonism syndrome; X-linked dystonia-parkinsonism/Lubag; dystonia 3, torsion, X-linked; dystonia-Parkinsonism, X-linked; X-linked dystonia-Parkinsonism syndrome; torsion dystonia-Parkinsonism, Filipino type; DYT-TAF1; X-linked dystonia Parkinsonism; DYT3; Lubag syndrome; Lubag; dystonia-Parkinsonism, X-linked, X-linked recessive; XDP
Definition
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.
Disease Hierarchy
DISHGY45: Parkinsonian disorder
DISD44TL: Combined dystonia
DIS26D7O: Focal dystonia
DIS5TT9O: X-linked dystonia-parkinsonism
Disease Identifiers
MONDO ID
MONDO_0010747
MESH ID
C564048
UMLS CUI
C1839130
OMIM ID
314250
MedGen ID
326820
Orphanet ID
53351
SNOMED CT ID
698279003

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
CSF2RA TT6MP2Z Limited Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NONO OTN36Q6U Limited Biomarker [2]
PRKRA OTUTVZZU Limited Biomarker [3]
TAF1 OTDYS5G4 Moderate X-linked [4]
THAP1 OTIWUSON Strong Altered Expression [5]
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References

1 Positron emission tomographic findings in Filipino X-linked dystonia-parkinsonism.Ann Neurol. 1993 Aug;34(2):185-91. doi: 10.1002/ana.410340214.
2 AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism.Hum Genet. 1997 Oct;100(5-6):569-72. doi: 10.1007/s004390050553.
3 Rare causes of dystonia parkinsonism.Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0.
4 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.
5 DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15.