ORPHA:420741
RIDDLE syndrome
Also known as: RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Publications
166
65.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,024
Distinct authors in sample
Gene link
RNF168
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), features (D), and learning difficulties (LE).
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:0012764
- MeSH:C567453
- OMIM:611943
- UMLS:C2677792
Additional Mondo synonyms (1)
radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties 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 — RNF168
- LiteraturePresent
166 matched papers (97 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 (RNF168).
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?
166
166 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.
166 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).
97 in the last 10 years · medium confidence · 65.8th percentile (publications denominator)
Phrase hits: 166 · MeSH hits: 3
Who's working on it?
1,024
Distinct author names in 166 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.
- 01Stewart GS13 papers · 2025
Cancer Research UK, Institute for Cancer Studies, Birmingham University, Vincent Drive, Edgbaston, Birmingham, United Kingdom. g.s.stewart@bham.ac.uk
Papers in Europe PMC - 02Chen J9 papers · 2022
Genome Stability Research Laboratory, The University of Hong Kong, Hong Kong, China.
Papers in Europe PMC - 03Casanova JL7 papers · 2020
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY , USA ; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France.
Papers in Europe PMC - 04Durocher D7 papers · 2019
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada ; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 05Cunningham-Rundles C6 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine , New York, NY , USA.
Papers in Europe PMC - 06Franco JL6 papers · 2020
Group of Primary Immunodeficiencies, University of Antioquia , Medellin , Colombia.
Papers in Europe PMC - 07Hakem R6 papers · 2021
Ontario Cancer Institute, University Health Network and Department of Medical Biophysics, University of Toronto, 610 University Avenue, Toronto, M5G 2M9 Ontario, Canada.
Papers in Europe PMC - 08Huen MS6 papers · 2017
Department of Anatomy, Centre for Cancer Research, University of Hong Kong, L1-59, Laboratory Block, 21 Sassoon Road, Hong Kong SAR.
Papers in Europe PMC - 09Picard C6 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes , Paris , France ; Centre d'Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP , Paris , France.
Papers in Europe PMC - 10Al-Herz W5 papers · 2020
Department of Pediatrics, Kuwait University , Kuwait City , Kuwait ; Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital , Kuwait City , Kuwait.
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.
"RIDDLE syndrome" OR "RNF168 deficiency" OR "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"
MeSH descriptor terms unioned into the query: Riddle Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RIDDLE syndrome" OR "RNF168 deficiency" OR "Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" OR "RNF168"
Recall-expansion terms: RNF168
Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T15:49:56.800Z