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ORPHA:98870

Congenital dyserythropoietic anemia type III

low confidenceDisorder

Also known as: CDA III · CDA type 3 · CDA type III · Congenital dyserythropoietic anemia type 3

Publications

2,281

Trials

0

Interventional, condition-specific

Researchers

519

Distinct authors in sample

Gene link

KIF23

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

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 (2)

congenital dyserythropoietic anemia type 3 · dyserythropoietic anemia, congenital, type III

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

    Moderate — KIF23

  2. LiteraturePresent

    2,281 matched papers (1,745 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Anisocytosis; Increased mean corpuscular volume; Headache) 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; 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?

Probably — there is moderate evidence for KIF23.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0007109

  • Anisocytosis
  • Increased mean corpuscular volume
  • Headache
  • Post-partum hemorrhage
  • Abnormal erythrocyte morphology

Showing 5 of 28 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,281

2,281 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.

2,281 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).

1,745 in the last 10 years · low confidence

Phrase hits: 105 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

519

Distinct author names in 105 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
    Iolascon A10 papers · 2024

    Università Federico II di Napoli, Italy.

    Papers in Europe PMC
  2. 02
    Wickramasinghe SN10 papers · 2000

    Department of Haematology, Imperial College School of Medicine at St Mary's, London, U.K.

    Papers in Europe PMC
  3. 03
    Wahlin A9 papers · 2013
    Papers in Europe PMC
  4. 04
    Tamary H8 papers · 2020

    Pediatric Hematology Oncology Center, Schneider Children's Medical Center of Israel, Beilinson Campus, Petah Tiqva, Israel. eytamary@netivision.net.il

    Papers in Europe PMC
  5. 05
    Sandström H7 papers · 2013

    Department of Family Medicine, University Hospital, Umeå, Sweden.

    Papers in Europe PMC
  6. 06
    Bieker JJ4 papers · 2025

    Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA james.bieker@mssm.edu.

    Papers in Europe PMC
  7. 07
    Eriksson M4 papers · 1997
    Papers in Europe PMC
  8. 08
    Kalfa TA4 papers · 2023

    Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH;

    Papers in Europe PMC
  9. 09
    Mishima M4 papers · 2022

    Biomedical Cell Biology, Warwick Medical School, University of Warwick, Gibbet Hill Road, Coventry, United Kingdom.

    Papers in Europe PMC
  10. 10
    Russo R4 papers · 2024

    Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples, Italy.

    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 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.

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

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 Congenital dyserythropoietic anemia type III — 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.

("Congenital dyserythropoietic anemia type III" OR "CDA III" OR "CDA type 3" OR "CDA type III" OR "Congenital dyserythropoietic anemia type 3" OR "dyserythropoietic anemia, congenital, type III") OR ("KIF23" OR "KIF23 syndrome" OR "KIF23-related")

Run this search on Europe PMC

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

"Congenital dyserythropoietic anemia type III" OR "CDA III" OR "CDA type 3" OR "CDA type III" OR "Congenital dyserythropoietic anemia type 3" OR "dyserythropoietic anemia, congenital, type III"

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

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 (2281) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:38:08.388Z