ORPHA:306674
Kufor-Rakeb syndrome
Also known as: PARK9
Publications
2,184
Trials
0
Interventional, condition-specific
Researchers
1,131
Distinct authors in sample
Gene link
ATP13A2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
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:0011706
- MeSH:C537177
- OMIM:606693
- UMLS:C1847640
Additional Mondo synonyms (1)
Kufor Rakeb Syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ATP13A2
- LiteraturePresent
2,184 matched papers (1,557 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (ATP13A2).
GenCC classification: Definitive.
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?
2,184
2,184 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.
2,184 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).
1,557 in the last 10 years · low confidence
Phrase hits: 2,184 · MeSH hits: 16
Who's working on it?
1,131
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Vangheluwe P13 papers · 2026
Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 02Van den Haute C8 papers · 2026
Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 03Baekelandt V7 papers · 2026
Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, Leuven Brain Institute, KU Leuven, Leuven, Belgium. veerle.baekelandt@kuleuven.be.
Papers in Europe PMC - 04Rohani M7 papers · 2025
Department of Neurology Rasool Akram Hospital, School of Medicine, Iran University of Medical Sciences Tehran Iran.
Papers in Europe PMC - 05Sue CM6 papers · 2021
Brain and Mind Centre, University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 06van Veen S6 papers · 2026
Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 07Chen X5 papers · 2026
Department of Gastroenterology, Affiliated Hospital of Guangdong Medical University, Xia Shan District, No. 57, Renmin Avenue South, Zhanjiang, Guangdong, 524001, PR China. myswmy@163.com.
Papers in Europe PMC - 08Eggermont J5 papers · 2026
Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 09Hattori N5 papers · 2026
Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address: nhattori@juntendo.ac.jp.
Papers in Europe PMC - 10Klein C5 papers · 2026
Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05522374·RECRUITING·TIRCON International NBIA Registry
Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via name + MeSH
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.
"Kufor-Rakeb syndrome" OR "PARK9" OR "Kufor Rakeb Syndrome"
MeSH descriptor terms unioned into the query: Kufor-Rakeb syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kufor-Rakeb syndrome" OR "PARK9" OR "Kufor Rakeb Syndrome" OR "ATP13A2"
Recall-expansion terms: ATP13A2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2184) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:49:32.728Z