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ORPHA:182050

MYH9-related syndromic thrombocytopenia

low confidenceDisorder

Also known as: MYH9-RD · MYH9-related disorder · MYH9-related syndrome

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

1,267

Trials

1

Interventional, condition-specific

Researchers

1,113

Distinct authors in sample

Gene link

MYH9

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex characterized by thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (16)

Epstein syndrome · FTNS · Fechtner syndrome · MATINS · MHA · MYH9 related disorders · MYH9-related disease · MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing loss · May-Hegglin anomaly · SBS · Sebastian platelet syndrome · Sebastian syndrome · giant platelet syndrome with thrombocytopenia · macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss · macrothrombocytopenia and progressive sensorineural deafness · macrothrombocytopenia progressive deafness

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MYH9

  2. LiteraturePresent

    1,267 matched papers (548 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (MYH9).

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?

1,267

1,267 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.

1,267 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).

548 in the last 10 years · low confidence

Phrase hits: 1,267 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,113

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kunishima S15 papers · 2026

    Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Japan.

    Papers in Europe PMC
  2. 02
    Pecci A9 papers · 2026

    Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  3. 03
    Wang Y9 papers · 2026

    Shaanxi Provincial Cancer Hospital Affiliated to Medical School, Xi'an Jiao Tong University, Xi'an, Shaanxi, China (mainland).

    Papers in Europe PMC
  4. 04
    Greinacher A7 papers · 2026

    Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany.

    Papers in Europe PMC
  5. 05
    Li Y7 papers · 2025

    Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Zhang Y7 papers · 2026

    Shaanxi Provincial Cancer Hospital Affiliated to Medical School, Xi'an Jiao Tong University, Xi'an, Shaanxi, China (mainland).

    Papers in Europe PMC
  7. 07
    Hattori M6 papers · 2025

    Department of Pediatric Nephrology, Tokyo Women's Medical University, 8-1, Kawada-Cho, Shinjuku-Ku, Tokyo, 162-8666, Japan. hattori@twmu.ac.jp.

    Papers in Europe PMC
  8. 08
    Miura K6 papers · 2025

    Department of Pediatric Nephrology, Tokyo Women's Medical University, 8-1, Kawada-Cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.

    Papers in Europe PMC
  9. 09
    Shirai Y6 papers · 2025

    Department of Pediatric Nephrology, Tokyo Women's Medical University, 8-1, Kawada-Cho, Shinjuku-Ku, Tokyo, 162-8666, Japan.

    Papers in Europe PMC
  10. 10
    Gresele P5 papers · 2026

    Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"MYH9-related syndromic thrombocytopenia" OR "MYH9-RD" OR "MYH9-related disorder" OR "MYH9-related syndrome" OR "Epstein syndrome" OR "Fechtner syndrome" OR "MATINS" OR "MYH9 related disorders" OR "MYH9-related disease" OR "MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing loss" OR "May-Hegglin anomaly" OR "Sebastian platelet syndrome" OR "Sebastian syndrome" OR "giant platelet syndrome with thrombocytopenia" OR "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" OR "macrothrombocytopenia and progressive sensorineural deafness" OR "macrothrombocytopenia progressive deafness"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Macrothrombocytopenia progressive deafness

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

"MYH9-related syndromic thrombocytopenia" OR "MYH9-RD" OR "MYH9-related disorder" OR "MYH9-related syndrome" OR "Epstein syndrome" OR "Fechtner syndrome" OR "MATINS" OR "MYH9 related disorders" OR "MYH9-related disease" OR "MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing loss" OR "May-Hegglin anomaly" OR "Sebastian platelet syndrome" OR "Sebastian syndrome" OR "giant platelet syndrome with thrombocytopenia" OR "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" OR "macrothrombocytopenia and progressive sensorineural deafness" OR "macrothrombocytopenia progressive deafness" OR "MYH9"

Recall-expansion terms: MYH9

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FTNS; MHA; SBS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • "Epstein syndrome" also appears on ORPHA:1019
  • "Fechtner syndrome" also appears on ORPHA:1984
  • "May-Hegglin anomaly" also appears on ORPHA:850
  • "Sebastian syndrome" also appears on ORPHA:807

Ingested 2026-07-27T09:06:21.418Z