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ORPHA:2297

Insulin-resistance syndrome type A

low confidenceDisorder

Publications

58,817

Trials

0

Interventional, condition-specific

Researchers

1,036

Distinct authors in sample

Gene link

INSR

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare insulin-resistance syndrome characterized by marked hyperinsulinemia, frequently associated with glucose tolerance abnormalities or diabetes, acanthosis nigricans, and hyperandrogenism in females.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism · type A insulin resistance 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.”

3/6 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

    58,817 matched papers (31,239 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Increased circulating androgen concentration; Fasting hyperinsulinemia; Amenorrhea) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name 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)

18

Associated phenotypes · MONDO:0012520

  • Increased circulating androgen concentration
  • Fasting hyperinsulinemia
  • Amenorrhea
  • Polycystic ovaries
  • Epidermal acanthosis

Showing 5 of 18 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

58,817

58,817 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.

58,817 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).

31,239 in the last 10 years · low confidence

Phrase hits: 484 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,036

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
    Ogawa W12 papers · 2025

    Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  2. 02
    Hirota Y10 papers · 2025

    Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  3. 03
    Li Y8 papers · 2026

    Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology of National Health Commission, Beijing 100730, China.

    Papers in Europe PMC
  4. 04
    Vigouroux C7 papers · 2025

    Sorbonne Université, INSERM UMRS_938, Saint-Antoine Research Centre, IHU ICAN, Paris, France.

    Papers in Europe PMC
  5. 05
    Semple RK6 papers · 2025

    University of Cambridge Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

    Papers in Europe PMC
  6. 06
    Zhang H6 papers · 2025

    Department of General Practice, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong province, 250014, China.

    Papers in Europe PMC
  7. 07
    Huang Z5 papers · 2025

    Department of Endocrinology and Diabetes Centre, The First Affiliated Hospital of Sun Yat-sen University, #58 Zhongshan Er Road, Guangzhou, Guangdong, P.R. China.

    Papers in Europe PMC
  8. 08
    Katagiri H5 papers · 2024

    Department of Metabolism and Diabetes, Tohoku University Graduate School of Medicine, Sendai, Japan.

    Papers in Europe PMC
  9. 09
    Auclair M4 papers · 2025

    Sorbonne Université, INSERM UMRS_938, Saint-Antoine Research Centre, IHU ICAN, Paris, France.

    Papers in Europe PMC
  10. 10
    Brown RJ4 papers · 2026

    National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA. brownrebecca@niddk.nih.gov.

    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 44 · after dedupe 44 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 44 · 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).

Uncertain / not reviewed (44)

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 Insulin-resistance syndrome type A — 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.

("Insulin-resistance syndrome type A" OR "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" OR "type A insulin resistance syndrome") 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):

"Insulin-resistance syndrome type A" OR "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" OR "type A insulin resistance syndrome"

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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (58817) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:42:21.397Z