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ORPHA:852

X-linked isolated thrombocytopenia with normal platelets size

low confidenceSubtype of disorder

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

Publications

3,975

Trials

0

Interventional, condition-specific

Researchers

1,477

Distinct authors in sample

Gene link

WAS

Strong

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

X-linked thrombocytopenia with normal platelets · thrombocytopenia 1 · thrombocytopenia type 1 · thrombocytopenia, X-linked, X-linked recessive · thrombocytopenia, X-linked, intermittent, X-linked recessive

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — WAS

  2. LiteraturePresent

    3,975 matched papers (2,613 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 trialPartial

    None under the specific name; 615 for broader category thrombocytopenia

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 (WAS).

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?

3,975

3,975 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.

3,975 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).

2,613 in the last 10 years · low confidence

Phrase hits: 3,975 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,477

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
    Chen Y5 papers · 2026

    Department of Pediatric Gastroenterology, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang, 110004, China.

    Papers in Europe PMC
  2. 02
    Li J5 papers · 2026

    Department of Thoracic Surgery and Esophageal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  3. 03
    Wang J4 papers · 2026

    Department of Neurology, Headache Center, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

    Papers in Europe PMC
  4. 04
    Chen L3 papers · 2026

    Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Chen X3 papers · 2026

    Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Fu S3 papers · 2026

    Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  7. 07
    Li M3 papers · 2025

    Department of Hepatobiliary Oncology, Liver Cancer Institute, National Clinical Research Center for Interventional Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Liu Y3 papers · 2026

    Department of Geriatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, China.

    Papers in Europe PMC
  9. 09
    Piha-Paul SA3 papers · 2026

    Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Shen Y3 papers · 2025

    Wuxi Mental Health Center of Nanjing Medical University, Wuxi, Jiangsu, 214151, 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). 615 trials are registered for thrombocytopenia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

615 interventional trials matched thrombocytopenia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: thrombocytopenia

615

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"X-linked isolated thrombocytopenia with normal platelets size" OR "X-linked thrombocytopenia with normal platelets" OR "thrombocytopenia 1" OR "thrombocytopenia type 1" OR "thrombocytopenia, X-linked, X-linked recessive" OR "thrombocytopenia, X-linked, intermittent, X-linked recessive"

Run this search on Europe PMC

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

"X-linked isolated thrombocytopenia with normal platelets size" OR "X-linked thrombocytopenia with normal platelets" OR "thrombocytopenia 1" OR "thrombocytopenia type 1" OR "thrombocytopenia, X-linked, X-linked recessive" OR "thrombocytopenia, X-linked, intermittent, X-linked recessive" OR "WAS"

Recall-expansion terms: WAS

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

Parent-category trials query:

"thrombocytopenia"

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 (3975) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:39:15.535Z