ORPHA:1667
Wolcott-Rallison syndrome
Also known as: Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
586
Trials
0
Interventional, condition-specific
Researchers
1,024
Distinct authors in sample
Gene link
EIF2AK3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent diabetes mellitus (PNDM) with multiple epiphyseal and other clinical manifestations, including recurrent episodes of acute liver failure.
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:0009192
- MeSH:C536739
- OMIM:226980
- UMLS:C0432217
- NCIT:C131007
Additional Mondo synonyms (1)
early-onset diabetes mellitus with multiple epiphyseal dysplasia
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 — EIF2AK3
- LiteraturePresent
586 matched papers (327 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 (EIF2AK3).
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?
586
586 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.
586 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).
327 in the last 10 years · low confidence
Phrase hits: 586 · MeSH hits: 0
Who's working on it?
1,024
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.
- 01De Franco E12 papers · 2026
Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Papers in Europe PMC - 02
- 03Deeb A6 papers · 2025
Department of Pediatric Endocrinology, Mafraq Hospital, AbuDhabi, United Arab Emirates.
Papers in Europe PMC - 04Flanagan SE6 papers · 2023
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Papers in Europe PMC - 05Habeb A4 papers · 2025
Department of Pediatric, Prince Mohamed bin Abdulaziz Hospital, Madinah, Saudi Arabia.
Papers in Europe PMC - 06Schlieben LD4 papers · 2025
School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Papers in Europe PMC - 07Amoli MM3 papers · 2024
Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 08Barbetti F3 papers · 2024
Department of Experimental Medicine, University of Rome Tor Vergata, Via Montpellier, 1, 00133 Rome, Italy. Electronic address: fabrizio.barbetti@uniroma2.it.
Papers in Europe PMC - 09Habeb AM3 papers · 2015
Endocrine and Diabetes Unit, Maternity and Children Hospital, Al-Madinah, Saudi Arabia. amhabeb@hotmail.com
Papers in Europe PMC - 10Hassan SS3 papers · 2026
Department of Pediatric Endocrinology, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
Observational and natural-history studies
1 observational study matches 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
- NCT03988764·RECRUITING·Monogenic Diabetes Misdiagnosed as Type 1
Conditions: Diabetes Mellitus, Type 1 · Monogenic Diabetes · Neonatal Diabetes · Maturity-onset Diabetes in the Young (MODY)·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.
"Wolcott-Rallison syndrome" OR "Early-onset diabetes mellitus with multiple epiphyseal dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Wolcott-Rallison syndrome" OR "Early-onset diabetes mellitus with multiple epiphyseal dysplasia" OR "EIF2AK3"
Recall-expansion terms: EIF2AK3
Study-type breakdown: 0 interventional · 1 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: WRS
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 (586) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T17:56:04.771Z