RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:852

X-linked isolated thrombocytopenia with normal platelets size

low confidenceSubtype of disorder

Publications

12,751,809

Trials

0

Interventional, condition-specific

Researchers

1,477

Distinct authors in sample

Gene link

WAS

Strong

Readiness

4/6

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.”

4/6 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

    12,751,809 matched papers (7,213,593 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Congenital thrombocytopenia; Intermittent thrombocytopenia; Decreased mean platelet volume) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 624 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)

11

Associated phenotypes · MONDO:0010743

  • Congenital thrombocytopenia
  • Intermittent thrombocytopenia
  • Decreased mean platelet volume
  • Increased circulating IgE concentration
  • Abnormality of the musculature

Showing 5 of 11 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0010743

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,751,809

12,751,809 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,751,809 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

7,213,593 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). 624 trials are registered for thrombocytopenia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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

Broader category: thrombocytopenia

624

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 40 · after dedupe 40 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 39 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (39)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for X-linked isolated thrombocytopenia with normal platelets size — check Associations / patient organisations on that page.

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") OR ("WAS syndrome" OR "WAS-related")

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"

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

Parent-category trials query:

"thrombocytopenia"

Query health: ok — strategies attempted: phrase; 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 (12751809) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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