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ORPHA:86841

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

low confidenceDisorder

Also known as: 5q- syndrome

Publications

1,200

Trials

11

Interventional, condition-specific

Researchers

1,345

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare myelodysplastic syndrome characterized by macrocytic anemia (with or without other cytopenias and/or thrombocytosis), and with del(5q) occurring either in isolation, or with one other cytogenetic abnormality, other than monosomy 7 or del(7q). The bone marrow is typically hypercellular with erythroid hypoplasia and increased numbers of megakaryocytes, which show non-lobated and hypolobated nuclei. Myeloblasts constitute less than 5% of the nucleated bone marrow cells and less than 1% of the peripheral blood leukocytes. Auer rods are absent. Ring sideroblasts may be observed. Patients present with anemia and often thrombocytosis, while thrombocytopenia or pancytopenia are uncommon. Transformation to acute myeloid leukemia may occur in a small number of patients.

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 (9)

5Q minus syndrome · 5Q- syndrome · 5q- syndrome, refractory macrocytic anaemia due to 5q deletion · chromosome 5q deletion syndrome · macrocytic anemia, refractory, due to 5q deletion, somatic · myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality · myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality · myelodysplastic syndrome with 5q deletion · myelodysplastic syndrome with isolated del(5q)

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

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

    1,200 matched papers (414 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Abnormality of bone marrow stromal cells; Macrocytic anemia; Abnormal megakaryocyte morphology) Source

  4. Animal modelPresent

    5 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (1 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)

23

Associated phenotypes · MONDO:0007925

  • Abnormality of bone marrow stromal cells
  • Macrocytic anemia
  • Abnormal megakaryocyte morphology
  • Megakaryocyte nucleus hypolobulation
  • Decreased total leukocyte count

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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_0007925

CTD chemicals (MyDisease.info)

2 associated chemicals · 35 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Lenalidomide · therapeutic
  • Azathioprine · marker/mechanism

Pathways: Ribosome; Ribosome, eukaryotes; Metabolism; L13a-mediated translational silencing of Ceruloplasmin expression; Eukaryotic Translation Elongation; Peptide chain elongation; Disease; Influenza Infection

MyDisease.info · MONDO:0007925

Literature

Is anyone studying this?

1,200

1,200 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=3967) is 59.

1,200 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).

414 in the last 10 years · low confidence

Phrase hits: 1,200 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,345

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
    Fenaux P5 papers · 2023

    Service d'hématologie seniors, Hôpital St Louis, Paris, France.

    Papers in Europe PMC
  2. 02
    Liu Y5 papers · 2024

    Clinical Research Center, The First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine, Guiyang, China.

    Papers in Europe PMC
  3. 03
    Boultwood J4 papers · 2018

    LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  4. 04
    Germing U4 papers · 2019

    Department of Haematology, Oncology and Clinical Immunology, Universitätsklinik Düsseldorf, Düsseldorf, Germany.

    Papers in Europe PMC
  5. 05
    Liu H4 papers · 2025

    Department of Hematology, Tianjin Medical University General Hospital, Tianjin, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Liu L4 papers · 2025

    Heilongjiang University Of Chinese Medicine, Harbin, Heilongjiang, China.

    Papers in Europe PMC
  7. 07
    Pellagatti A4 papers · 2018

    LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  8. 08
    Tefferi A4 papers · 2023

    Divisions of Hematology and Hematopathology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2024

    Guizhou Medical University, Guiyang, China.

    Papers in Europe PMC
  10. 10
    Yang Y4 papers · 2025

    Department of Hematology, Tianjin Medical University General Hospital, Tianjin, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1,098 trials are registered for myelodysplastic syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: myelodysplastic syndrome

1,098

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

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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

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 (5)

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 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality — 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.

"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" OR "5q- syndrome" OR "5Q minus syndrome" OR "5q- syndrome, refractory macrocytic anaemia due to 5q deletion" OR "chromosome 5q deletion syndrome" OR "macrocytic anemia, refractory, due to 5q deletion, somatic" OR "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" OR "myelodysplastic syndrome with 5q deletion" OR "myelodysplastic syndrome with isolated del(5q)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chromosome 5q Deletion Syndrome

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

"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" OR "5q- syndrome" OR "5Q minus syndrome" OR "5q- syndrome, refractory macrocytic anaemia due to 5q deletion" OR "chromosome 5q deletion syndrome" OR "macrocytic anemia, refractory, due to 5q deletion, somatic" OR "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" OR "myelodysplastic syndrome with 5q deletion" OR "myelodysplastic syndrome with isolated del(5q)"

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

Study-type breakdown: 11 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myelodysplastic syndrome"

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

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 (1200) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:10:32.175Z