ORPHA:67044
Thrombocytopenia with congenital dyserythropoietic anemia
Also known as: Congenital dyserythropoietic anemia with thombocytopenia · X-linked congenital dyserythropoietic anemia with thrombocytopenia · XDAT
Publications
4
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
34
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare hematological disorder characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects almost exclusively males.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019031
- UMLS:C4302508
Additional Mondo synonyms (3)
X-linked congenital dyserythropoietic anaemia with thrombocytopenia · congenital dyserythropoietic anaemia with thombocytopenia · congenital dyserythropoietic anemia with thombocytopenia
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
4 matched papers (3 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 trialPartial
None under the specific name; 2 for broader category congenital dyserythropoietic anemia
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?
4
4 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
4 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).
3 in the last 10 years · medium confidence · 15.2th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
34
Distinct author names in 4 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.
- 01Abouelhoda M1 paper · 2021
Saudi Human Genome Program. King Abdulaziz Center for Science & Technology, Riyadh, Saudi Arabia.
Papers in Europe PMC - 02Ahmed SO1 paper · 2021
Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 03Al-Zahrani H1 paper · 2021
Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Alaiya A1 paper · 2021
Department of Stem Cell Therapy. Proteomics Program. King Faisal Specialist Hospital and Research Center, MBC-03-30. PO Box 3354, Riyadh 11211, Saudi Arabia.
Papers in Europe PMC - 05Aljurf M1 paper · 2021
Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Almohareb F1 paper · 2021
Adult hematology/BMT, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Almourfi F1 paper · 2021
Saudi Human Genome Program. King Abdulaziz Center for Science & Technology, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Alsohaibani F1 paper · 2021
Department of Internal Medicine, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Arold ST1 paper · 2021
King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, 23955-6900, Saudi Arabia.
Papers in Europe PMC - 10Chiang KY1 paper · 2023
Division of Pediatric Hematology/Oncology, University of Toronto/The Hospital for Sick Children, Toronto, Canada.
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). 2 trials are registered for congenital dyserythropoietic anemia, 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.
medium 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.
2 interventional trials matched congenital dyserythropoietic anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital dyserythropoietic anemia
2
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
- NCT07471516·RECRUITING·Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia
Conditions: Congenital Dyserythropoietic Anemia (CDA)·Matched via name phrase
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.
"Thrombocytopenia with congenital dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia with thombocytopenia" OR "X-linked congenital dyserythropoietic anemia with thrombocytopenia" OR "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" OR "congenital dyserythropoietic anaemia with thombocytopenia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Thrombocytopenia with congenital dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia with thombocytopenia" OR "X-linked congenital dyserythropoietic anemia with thrombocytopenia" OR "X-linked congenital dyserythropoietic anaemia with thrombocytopenia" OR "congenital dyserythropoietic anaemia with thombocytopenia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital dyserythropoietic anemia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XDAT
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:25:53.954Z