ORPHA:140874
Joubert syndrome
Also known as: JS
Publications
3,922
Trials
1
Interventional, condition-specific
Researchers
1,257
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Joubert syndrome (JS) and related disorders (JSRD) are a group of /multiple anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015369
- UMLS:C5679612
Additional Mondo synonyms (2)
JSRD · Joubert syndrome and related disorders
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,922 matched papers (2,469 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
3,922
3,922 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.
3,922 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).
2,469 in the last 10 years · low confidence
Phrase hits: 3,922 · MeSH hits: 0
Who's working on it?
1,257
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.
- 01Valente EM7 papers · 2026
Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: enzamaria.valente@unipv.it.
Papers in Europe PMC - 02Lu C4 papers · 2026
National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
Papers in Europe PMC - 03Mański Ł4 papers · 2026
Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland.
Papers in Europe PMC - 04Moluszys A4 papers · 2026
Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland.
Papers in Europe PMC - 05Shen Y4 papers · 2026
National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
Papers in Europe PMC - 06Wierzba J4 papers · 2026
Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, 80-208 Gdansk, Poland .
Papers in Europe PMC - 07Barroso-Gil M3 papers · 2020
Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Papers in Europe PMC - 08Cao Z3 papers · 2026
National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
Papers in Europe PMC - 09Catala M3 papers · 2026Papers in Europe PMC
- 10Chen Z3 papers · 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
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.
Observational and natural-history studies
2 observational studies match 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
- NCT01401998·RECRUITING·ARPKD Database Study
Conditions: Hepato/Renal Fibrocystic Disease · Autosomal Recessive Polycystic Kidney Disease · Joubert Syndrome · Bardet Biedl Syndrome·Matched via name phrase
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.
"Joubert syndrome" OR "Joubert syndrome and related disorders"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Joubert syndrome" OR "Joubert syndrome and related disorders"
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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: JS; JSRD
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- "Joubert syndrome" also appears on ORPHA:475
Ingested 2026-07-27T07:42:02.333Z