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ORPHA:220497

Joubert syndrome with renal defect

low confidenceSubtype of disorder

Also known as: JS-R

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,497

Trials

0

Interventional, condition-specific

Researchers

444

Distinct authors in sample

Gene link

NPHP1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

JBTS4 · Joubert syndrome type 4

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — NPHP1

  2. LiteraturePresent

    1,497 matched papers (901 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Molar tooth sign on MRI; Thickened superior cerebellar peduncle; Hypometric saccades) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 1 for broader category Joubert syndrome

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 (NPHP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0012308

  • Molar tooth sign on MRI
  • Thickened superior cerebellar peduncle
  • Hypometric saccades
  • Renal insufficiency
  • Hypotonia

Showing 5 of 53 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,497

1,497 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=3967) is 59.

1,497 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

901 in the last 10 years · low confidence

Phrase hits: 71 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

444

Distinct author names in 71 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.

  1. 01
    Valente EM8 papers · 2023

    Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Medicine and Surgery, University of Salerno, Salerno, Italy. Electronic address: e.valente@css-mendel.it.

    Papers in Europe PMC
  2. 02
    Boltshauser E6 papers · 2023

    Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland.

    Papers in Europe PMC
  3. 03
    Brancati F5 papers · 2013

    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy.

    Papers in Europe PMC
  4. 04
    Hildebrandt F4 papers · 2017

    Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.

    Papers in Europe PMC
  5. 05
    Saunier S4 papers · 2022

    Laboratory of Renal Hereditary Diseases, Imagine Institute, Université de Paris, INSERM UMR 1163, Paris, France.

    Papers in Europe PMC
  6. 06
    Audollent S3 papers · 2009
    Papers in Europe PMC
  7. 07
    Dallapiccola B3 papers · 2013
    Papers in Europe PMC
  8. 08
    Encha-Razavi F3 papers · 2009
    Papers in Europe PMC
  9. 09
    Gubler MC3 papers · 2009
    Papers in Europe PMC
  10. 10
    Johnson CA3 papers · 2014

    Department of Ophthalmology and Neuroscience, University of Leeds, UK.

    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). 1 trial are registered for Joubert syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

1 interventional trial matched Joubert syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Joubert syndrome

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Joubert syndrome with renal defect — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 renal defect" OR "JBTS4" OR "Joubert syndrome type 4") OR (MESH:"Joubert syndrome 4") OR ("NPHP1" OR "NPHP1 syndrome" OR "NPHP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Joubert syndrome 4

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Joubert syndrome with renal defect" OR "JBTS4" OR "Joubert syndrome type 4" OR "Joubert syndrome 4"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Joubert syndrome"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JS-R

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
  • Publication count (1497) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:54:22.471Z