ORPHA:140976
RHYNS syndrome
Also known as: Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
21
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
165
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal .
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:0011202
- MeSH:C537612
- OMIM:602152
- UMLS:C1865794
Additional Mondo synonyms (1)
retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia 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
21 matched papers (16 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?
21
21 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.
21 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).
16 in the last 10 years · medium confidence · 33.9th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
165
Distinct author names in 21 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.
- 01Ahmed M2 papers · 2025
Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Papers in Europe PMC - 02Best S2 papers · 2025
Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.
Papers in Europe PMC - 03Blacque OE2 papers · 2025
School of Biomolecular & Biomedical Science, University College Dublin, Belfield, Ireland.
Papers in Europe PMC - 04Brancati F2 papers · 2020
Department of Life, Health and Environmental Sciences, Unit of Medical Genetics University of L'Aquila, L'Aquila, Italy.
Papers in Europe PMC - 05Colao E2 papers · 2023
Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
Papers in Europe PMC - 06Fischer S2 papers · 2025
Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Papers in Europe PMC - 07Johnson CA2 papers · 2025
Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.
Papers in Europe PMC - 08Lange KI2 papers · 2025
School of Biomolecular & Biomedical Science, University College Dublin, Belfield, Ireland.
Papers in Europe PMC - 09Nandadasa S2 papers · 2025
Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA, USA. Sumeda.Nandadasa@Umassmed.edu.
Papers in Europe PMC - 10Novelli G2 papers · 2020
Department of Biomedicine and Prevention, University of Tor Vergata and University Hospital Tor Vergata, Unit of Medical Genetics Rome & IRCCS Neuromed, Pozzilli, Italy.
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.
"RHYNS syndrome" OR "Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"
MeSH descriptor terms unioned into the query: RHYNS syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RHYNS syndrome" OR "Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:48:41.502Z