RARE DISEASERESEARCH ATLAS

ORPHA:86839

Myelodysplastic neoplasm with increased blasts

low confidenceDisorder

Also known as: MDS with excess blasts · MDS-IB · RAEB · Refractory anemia with excess blasts

Publications

3,206

Trials

64

Interventional, condition-specific

Researchers

1,735

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS) characterized by cytopenias with unilineage or multilineage and 5% to 19% blasts in bone marrow or blood.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

MDS-EB · myelodysplastic syndrome with Excess blasts · refractory Anaemia with Excess blasts · refractory Anaemia with an Excess of blasts · refractory Anemia with Excess blasts · refractory Anemia with an Excess of blasts

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,206 matched papers (1,785 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

    64 matched on ClinicalTrials.gov (8 recruiting in sample)

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?

3,206

3,206 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.

3,206 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).

1,785 in the last 10 years · low confidence

Phrase hits: 3,205 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,735

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
    Chen X7 papers · 2026

    Clinical Laboratory, Department of Clinical Laboratory, The People's Hospital of Longhua Shenzhen, Shenzhen, China.

    Papers in Europe PMC
  2. 02
    Zhang X7 papers · 2026

    Department of Hematology, Second Hospital of Hebei Medical University, Hebei Key Laboratory of Hematology, Shijiazhuang, Hebei 050000, China.

    Papers in Europe PMC
  3. 03
    Zhang Y7 papers · 2026

    Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  4. 04
    Chen Y6 papers · 2026

    Newave Pharmaceutical Inc.

    Papers in Europe PMC
  5. 05
    Li X6 papers · 2026

    Center for Information and Resource, State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology, Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300000, China.

    Papers in Europe PMC
  6. 06
    Li Y6 papers · 2026

    Department of Hematology, Xuanwu Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  7. 07
    Wang L6 papers · 2026

    Department of Hematology, Affiliated Wuxi People's Hospital, Nanjing Medical University, Wuxi, China.

    Papers in Europe PMC
  8. 08
    Erlacher M5 papers · 2025

    Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  9. 09
    Hou HA5 papers · 2026

    1Division of Hematology, Department of Internal Medicine, National Taiwan University Hospital, No.7, Chung Shan S. Rd., Zhongzheng Dist, Taipei, 10002 Taiwan.

    Papers in Europe PMC
  10. 10
    Liu L5 papers · 2026

    Department of Hematology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

64

interventional trials for this specific condition

64 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 27 July 2026

64 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.7th percentile).

low confidence · 97.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

"Myelodysplastic neoplasm with increased blasts" OR "MDS with excess blasts" OR "MDS-IB" OR "Refractory anemia with excess blasts" OR "MDS-EB" OR "myelodysplastic syndrome with Excess blasts" OR "refractory Anaemia with Excess blasts" OR "refractory Anaemia with an Excess of blasts" OR "refractory Anaemia with an Excess of the blasts" OR "refractory Anemia with an Excess of blasts" OR "refractory Anemia with an Excess of the blasts"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Anemia, Refractory, with Excess of Blasts

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

"Myelodysplastic neoplasm with increased blasts" OR "MDS with excess blasts" OR "MDS-IB" OR "Refractory anemia with excess blasts" OR "MDS-EB" OR "myelodysplastic syndrome with Excess blasts" OR "refractory Anaemia with Excess blasts" OR "refractory Anaemia with an Excess of blasts" OR "refractory Anaemia with an Excess of the blasts" OR "refractory Anemia with an Excess of blasts" OR "refractory Anemia with an Excess of the blasts" OR "Anemia, Refractory, with Excess of Blasts"

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

Study-type breakdown: 64 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RAEB

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
  • Publication count (3206) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:09:47.488Z