ORPHA:1454
Joubert syndrome with hepatic defect
Also known as: COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis · Gentile syndrome · JS-H · Joubert syndrome with congenital hepatic fibrosis
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
211
69.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,299
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with hepatic fibrosis (CHF).
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:0100349
- MeSH:C536430
- UMLS:C1857662
Additional Mondo synonyms (2)
cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis · gentile 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
211 matched papers (121 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?
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?
211
211 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
211 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).
121 in the last 10 years · medium confidence · 69.6th percentile (publications denominator)
Phrase hits: 211 · MeSH hits: 0
Who's working on it?
1,299
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.
- 01Valente EM11 papers · 2022
Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Papers in Europe PMC - 02Gleeson JG10 papers · 2015
Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093-0624, USA. jogleeson@ucsd.edu
Papers in Europe PMC - 03Brancati F9 papers · 2018
IRCCS CSS, Mendel Institute, viale Regina Margherita 261, 00198, Rome, Italy.
Papers in Europe PMC - 04Parisi MA9 papers · 2019
National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
Papers in Europe PMC - 05Glass IA8 papers · 2018
Department of Pediatrics, University of Washington, Seattle, Washington, USA Seattle Children's Research Institute, Seattle, Washington, USA.
Papers in Europe PMC - 06Boltshauser E7 papers · 2013Papers in Europe PMC
- 07Dallapiccola B7 papers · 2013Papers in Europe PMC
- 08Johnson CA7 papers · 2025
Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, West Yorkshire, UK.
Papers in Europe PMC - 09Doherty D6 papers · 2018
University of Washington and Seattle Children's Hospital, Seattle, WA, USA. ddoher@u.washington.edu
Papers in Europe PMC - 10Gunay-Aygun M6 papers · 2018
Medical Genetics Branch, National Human Genome Research Institute.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
medium 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.
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 with hepatic defect" OR "COACH syndrome" OR "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" OR "Gentile syndrome" OR "Joubert syndrome with congenital hepatic fibrosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Joubert syndrome with hepatic defect" OR "COACH syndrome" OR "Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" OR "Gentile syndrome" OR "Joubert syndrome with congenital hepatic fibrosis" OR "Joubert syndrome and related disorders"
Recall-expansion terms: Joubert syndrome and related disorders
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: JS-H
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:25:52.460Z