ORPHA:850
May-Hegglin thrombocytopenia
Also known as: MHA · May-Hegglin anomaly · May-Hegglin syndrome
Publications
503
Trials
0
Interventional, condition-specific
Researchers
1,033
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
503 matched papers (163 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
503
503 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.
503 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).
163 in the last 10 years · low confidence
Phrase hits: 503 · MeSH hits: 0
Who's working on it?
1,033
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.
- 01Kunishima S19 papers · 2025
Japanese Red Cross Aichi Blood Center, Seto 489-8555.
Papers in Europe PMC - 02Wang Y6 papers · 2024
Shaanxi Provincial Cancer Hospital Affiliated to Medical School, Xi'an Jiao Tong University, Xi'an, Shaanxi, China (mainland).
Papers in Europe PMC - 03Li Y5 papers · 2024
Department of Hematology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Papers in Europe PMC - 04Savoia A5 papers · 2012
Department of Medical Sciences, Institute for Maternal and Child Health – IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
Papers in Europe PMC - 05Nakamura T4 papers · 2026
Department of Pediatrics, Odawara Municipal Hospital, 46, Kuno, Odawara, Kanagawa, Japan.
Papers in Europe PMC - 06Pecci A4 papers · 2012
IRCCS Policlinico San Matteo Foundation;, Department of Internal Medicine, University of Pavia, Pavia, Italy
Papers in Europe PMC - 07Zhang Y4 papers · 2025
School of Biomedical Engineering, Faculty of Engineering, The University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 08Balduini CL3 papers · 2012
Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy. c.balduini@smatteo.pv.it
Papers in Europe PMC - 09Greinacher A3 papers · 2011Papers in Europe PMC
- 10Saito H3 papers · 2010
Nagoya Central Hospital, Nagoya, Japan. hidehiko.saito@jr-central.co.jp
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.
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.
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.
"May-Hegglin thrombocytopenia" OR "May-Hegglin anomaly" OR "May-Hegglin syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"May-Hegglin thrombocytopenia" OR "May-Hegglin anomaly" OR "May-Hegglin 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
Synonyms dropped by stoplist: MHA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "May-Hegglin anomaly" also appears on ORPHA:182050
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T15:38:22.523Z