ORPHA:769
Rabson-Mendenhall syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
372
78.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,035
Distinct authors in sample
Gene link
INSR
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of INSR-related severe insulin-resistance syndrome characterized by intrauterine and postnatal growth delay, short stature, acanthosis nigricans, dental, hair and nail abnormalities, facial dysmorphism, organomegaly and major hyperinsulinemia with dysglycemia.
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:0009874
- OMIM:262190
- UMLS:C0271695
- NCIT:C131000
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
Strong — INSR
- LiteraturePresent
372 matched papers (203 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 (INSR).
GenCC classification: Strong.
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?
372
372 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.
372 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).
203 in the last 10 years · medium confidence · 78.9th percentile (publications denominator)
Phrase hits: 372 · MeSH hits: 0
Who's working on it?
1,035
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.
- 01Semple RK14 papers · 2026
University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK. rsemple@ed.ac.uk.
Papers in Europe PMC - 02Barbetti F8 papers · 2024
Bambino Gesù Children's Hospital, IRCCS, Roma, Italia; Department of Experimental Medicine and Surgery, University of Tor Vergata, Roma, Italia.
Papers in Europe PMC - 03Brown RJ7 papers · 2025
MD, MHSc, Building 10-CRC, Room 6-5942, 10 Center Drive, Bethesda, Maryland 20892. brownrebecca@mail.nih.gov.
Papers in Europe PMC - 04Ogawa W5 papers · 2023
Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017 Japan.
Papers in Europe PMC - 05Cochran E4 papers · 2022
Diabetes, Endocrine and Obesity Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, Md., USA
Papers in Europe PMC - 06De Franco E4 papers · 2026
Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Papers in Europe PMC - 07Gorden P4 papers · 2021
Diabetes, Endocrine and Obesity Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, Md., USA
Papers in Europe PMC - 08Hirota Y4 papers · 2023
Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017 Japan.
Papers in Europe PMC - 09Szablewski L4 papers · 2025
Chair and Department of General Biology and Parasitology, Medical University of Warsaw, Chałubińskiego 5, 02-004 Warsaw, Poland.
Papers in Europe PMC - 10Vigouroux C4 papers · 2025
Saint-Antoine Hospital, Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), 184 rue du Faubourg Saint-Antoine, 75012, Paris, France. corinne.vigouroux@aphp.fr.
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.
"Rabson-Mendenhall syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rabson-Mendenhall syndrome" OR "INSR"
Recall-expansion terms: INSR
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (372) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T15:17:22.464Z