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ORPHA:508

Donohue syndrome

low confidenceDisorder

Publications

59,015

Trials

0

Interventional, condition-specific

Researchers

1,055

Distinct authors in sample

Gene link

INSR

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of INSR-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal , features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to complications, and/or infections.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Leprechaunism · leprechaunism

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — INSR

  2. LiteraturePresent

    59,015 matched papers (31,241 in last 10 years) Source

  3. Phenotype characterisedPresent

    99 HPO annotations (e.g. Hypertrichosis; Fasting hypoglycemia; Reduced subcutaneous adipose tissue) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. rhIGF-I/rhIGFBP-3 Source

  6. 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: Definitive.

Phenotypes (Monarch / HPO)

99

Associated phenotypes · MONDO:0009517

  • Hypertrichosis
  • Fasting hypoglycemia
  • Reduced subcutaneous adipose tissue
  • Severe intrauterine growth retardation
  • Postnatal growth retardation

Showing 5 of 99 — 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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA rhIGF-I/rhIGFBP-3Leprechaunism Rabson-Mendenhall Syndrome Extreme insulin resistance · 2003-12-09 · Not FDA Approved for Orphan Indication
  • EMA recombinant human insulin-like growth factor-I;recombinant human insulin-like growth factor binding protein-3Treatment of leprechaunism · 21/10/2004 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

59,015

59,015 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

59,015 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).

31,241 in the last 10 years · low confidence

Phrase hits: 785 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,055

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.

  1. 01
    Semple RK9 papers · 2026

    Centre for Cardiovascular Science, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom.

    Papers in Europe PMC
  2. 02
    Lascols O6 papers · 2025

    INSERM, UMR-S 938, CDR Saint-Antoine, 75012 Paris, France; Sorbonne University UPMC Université Paris 06, UMR-S 938, 75012 Paris, France; Institute of Cardiometabolism and Nutrition (ICAN), AP-HP, GH HUEP, 75012 Paris, France.

    Papers in Europe PMC
  3. 03
    Shah P5 papers · 2026

    Endocrinology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom, pratik.shah6@nhs.net.

    Papers in Europe PMC
  4. 04
    Barbetti F4 papers · 2024

    Clinical Laboratory Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Flanagan SE4 papers · 2024

    Institute of Biomedical and Clinical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.

    Papers in Europe PMC
  6. 06
    Hirota Y4 papers · 2023

    Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.

    Papers in Europe PMC
  7. 07
    Kim JH4 papers · 2022

    Center for Advanced Bio-Molecular Recognition, Korea Institute of Science and Technology, Seoul, Korea.

    Papers in Europe PMC
  8. 08
    Ogawa W4 papers · 2023

    Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.

    Papers in Europe PMC
  9. 09
    Aslanzadeh V3 papers · 2025

    Centre for Cardiovascular Science, , , ,

    Papers in Europe PMC
  10. 10
    Brierley GV3 papers · 2025

    The University of Cambridge Metabolic Research Laboratories, Wellcome-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, U.K. rsemple@ed.ac.uk gb466@cam.ac.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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Donohue syndrome — 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.

("Donohue syndrome" OR "Leprechaunism") OR ("INSR" OR "INSR syndrome" OR "INSR-related")

Run this search on Europe PMC

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

"Donohue syndrome" OR "Leprechaunism"

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

Query health: ok — strategies attempted: phrase; 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
  • Publication count (59015) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:06:02.831Z