ORPHA:2297
Insulin-resistance syndrome type A
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
484
84.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,036
Distinct authors in sample
Gene link
INSR
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012520
- MeSH:C562710
- OMIM:610549
- UMLS:C0342278
- NCIT:C131836
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.”
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 — INSR
- LiteraturePresent
484 matched papers (290 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: 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?
484
484 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.
484 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).
290 in the last 10 years · high confidence · 84.3th percentile (publications denominator)
Phrase hits: 484 · MeSH hits: 0
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.
- 01Ogawa W12 papers · 2025
Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 02Hirota Y10 papers · 2025
Division of Diabetes and Endocrinology, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 03Li 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 - 04Vigouroux C7 papers · 2025
Sorbonne Université, INSERM UMRS_938, Saint-Antoine Research Centre, IHU ICAN, Paris, France.
Papers in Europe PMC - 05Semple RK6 papers · 2025
University of Cambridge Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.
Papers in Europe PMC - 06Zhang 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 - 07Huang 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 - 08Katagiri H5 papers · 2024
Department of Metabolism and Diabetes, Tohoku University Graduate School of Medicine, Sendai, Japan.
Papers in Europe PMC - 09Auclair M4 papers · 2025
Sorbonne Université, INSERM UMRS_938, Saint-Antoine Research Centre, IHU ICAN, Paris, France.
Papers in Europe PMC - 10Brown 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 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.
high 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.
"Insulin-resistance syndrome type A" OR "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" OR "type A insulin resistance syndrome"
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" 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
Ingested 2026-07-26T19:42:21.397Z