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ORPHA:480851

Hereditary thrombocytopenia with early-onset myelofibrosis

low confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,647

Trials

0

Interventional, condition-specific

Researchers

1,488

Distinct authors in sample

Gene link

SRC

Strong

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and . Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.

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 (3)

hereditary thrombocytopenia with early-onset myelofibrosis · thrombocytopenia 6 · thrombocytopenia type 6

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.

  1. Gene identifiedPresent

    Strong — SRC

  2. LiteraturePresent

    1,647 matched papers (1,131 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 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 (SRC).

GenCC classification: Strong.

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?

1,647

1,647 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.

1,647 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).

1,131 in the last 10 years · low confidence

Phrase hits: 1,647 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,488

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
    Liu J4 papers · 2026

    Department of Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen 518038, China.

    Papers in Europe PMC
  2. 02
    Wang X4 papers · 2026

    Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, 350014, China.

    Papers in Europe PMC
  3. 03
    Yang X4 papers · 2026

    Department of Liver Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: yangxiaobo67@pumch.cn.

    Papers in Europe PMC
  4. 04
    Zhang L4 papers · 2026

    Department of Respiratory and Critical Care Medicine, First Affiliated Hospital of Wannan Medical College, Wuhu, China.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2025

    Department of Oncology Center, Peking University International Hospital, Beijing, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Chen X3 papers · 2026

    Department of Pharmacy, West China Hospital of Sichuan University, Chengdu, Sichuan, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Li L3 papers · 2026

    Bone Marrow Transplantation Center, The First Affiliated Hospital, Zhejiang University School of Medicine, 79# Qingchun Road, Hangzhou, 310003, China.

    Papers in Europe PMC
  8. 08
    Li S3 papers · 2026

    Department of Liver Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  9. 09
    Li Y3 papers · 2026

    Department of Oncology and Vascular Interventional Therapy, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, 350014, China.

    Papers in Europe PMC
  10. 10
    Liu Q3 papers · 2026

    Department of Oncology, Tangdu Hospital, Fourth Military Medical University, Xi'an, 710038, People's Republic of China.

    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 2026-07-26

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.

"Hereditary thrombocytopenia with early-onset myelofibrosis" OR "thrombocytopenia 6" OR "thrombocytopenia type 6"

Run this search on Europe PMC

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

"Hereditary thrombocytopenia with early-onset myelofibrosis" OR "thrombocytopenia 6" OR "thrombocytopenia type 6" OR "SRC"

Recall-expansion terms: SRC

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
  • Publication count (1647) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:15:01.423Z