ORPHA:53351
X-linked dystonia-parkinsonism
Also known as: DYT3 · Lubag · Lubag syndrome · XDP
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
676
Trials
1
Interventional, condition-specific
Researchers
1,008
Distinct authors in sample
Gene link
TAF1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010747
- MeSH:C564048
- OMIM:314250
- UMLS:C1839130
- NCIT:C126330
Additional Mondo synonyms (3)
DYT-TAF1 · X-linked dystonia Parkinsonism · dystonia-Parkinsonism, X-linked, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TAF1
- LiteraturePresent
676 matched papers (474 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (TAF1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
676
676 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
676 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
474 in the last 10 years · low confidence
Phrase hits: 676 · MeSH hits: 0
Who's working on it?
1,008
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Klein C33 papers · 2026
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 02Brüggemann N32 papers · 2026
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 03Bragg DC28 papers · 2026
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA. Electronic address: bragg@helix.mgh.harvard.edu.
Papers in Europe PMC - 04Diesta CCE27 papers · 2026
Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati City, Philippines.
Papers in Europe PMC - 05Rosales RL24 papers · 2026
Department of Neurology and Psychiatry, University of Santo Tomas Hospital, Manila, Philippines.
Papers in Europe PMC - 06Westenberger A24 papers · 2026
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 07Sharma N21 papers · 2026
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Papers in Europe PMC - 08Jamora RDG20 papers · 2026
Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
Papers in Europe PMC - 09Domingo A17 papers · 2026
Institute of Neurogenetics, University of Lübeck, Maria-Goeppert-Straße 1, Lübeck, Germany.
Papers in Europe PMC - 10Ozelius LJ15 papers · 2026
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA. laurie.ozelius@mgh.harvard.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"X-linked dystonia-parkinsonism" OR "Lubag" OR "Lubag syndrome" OR "DYT-TAF1" OR "X-linked dystonia Parkinsonism" OR "dystonia-Parkinsonism, X-linked, X-linked recessive"
MeSH descriptor terms unioned into the query: Dystonia 3, Torsion, X-Linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked dystonia-parkinsonism" OR "Lubag" OR "Lubag syndrome" OR "DYT-TAF1" OR "X-linked dystonia Parkinsonism" OR "dystonia-Parkinsonism, X-linked, X-linked recessive" OR "Dystonia 3, Torsion, X-Linked" OR "TAF1"
Recall-expansion terms: TAF1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DYT3; XDP
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (676) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T00:52:25.574Z