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ORPHA:293825

Autosomal dominant KLF1-related dyserythropoietic anemia

low confidenceDisorder

Also known as: Congenital dyserythropoietic anemia type IVa · Congenital dyserythropoietic anemia type 4a · CDA type IVa · CDA type 4a

Publications

3,247

Trials

0

Interventional, condition-specific

Researchers

601

Distinct authors in sample

Gene link

KLF1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of dyserythropoietic anemia (CDA) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, , hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic and occasional features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same -negative missense variant, E325K, in the KLF1 gene (19p13.2).

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 (8)

CDA IV · CDA due to KLF1 mutation · CDA type 4 · CDA type IV · CDAN4 · congenital dyserythropoietic anemia due to KLF1 mutation · congenital dyserythropoietic anemia type 4 · dyserythropoietic anemia, congenital, type IV

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

    Definitive — KLF1

  2. LiteraturePresent

    3,247 matched papers (2,295 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Hypospadias; Short stature; Anemia) 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; 2146 for broader category 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?

Yes — we know a specific gene responsible (KLF1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0013355

  • Hypospadias
  • Short stature
  • Anemia
  • Hydrops fetalis
  • Reticulocytosis

Showing 5 of 29 — 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?

3,247

3,247 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.

3,247 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).

2,295 in the last 10 years · low confidence

Phrase hits: 100 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

601

Distinct author names in 100 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
    Bieker JJ21 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA james.bieker@mssm.edu.

    Papers in Europe PMC
  2. 02
    Gnanapragasam MN7 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  3. 03
    Iolascon A5 papers · 2021

    Department of Molecular Medicine and Medical Biotechnology, University Federico II Naples, Italy achille.iolascon@unina.it.

    Papers in Europe PMC
  4. 04
    Perkins AC5 papers · 2021

    Mater Research Institute, University of Queensland, Woolloongabba QLD 4102, Queensland, Australia.

    Papers in Europe PMC
  5. 05
    Russo R5 papers · 2021

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

    Papers in Europe PMC
  6. 06
    Siatecka M5 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  7. 07
    Tamary H5 papers · 2025

    Pediatric Hematology Unit, Schneider Children's Medical Center of Israel, Petah Tiqva, Sackler Faculty of Medicine, Tel Aviv University, Israel.

    Papers in Europe PMC
  8. 08
    Philipsen S4 papers · 2024

    Department of Cell Biology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Xue L4 papers · 2025

    Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, NY 10029, USA.

    Papers in Europe PMC
  10. 10
    Andolfo I3 papers · 2021

    Department of Molecular Medicine and Medical Biotechnology, University Federico II 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). 2,146 trials are registered for anemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 October 2026 · last trial check 26 October 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5498 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.

2,146 interventional trials matched anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: anemia

2,146

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Autosomal dominant KLF1-related dyserythropoietic anemia — 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.

("Autosomal dominant KLF1-related dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia type IVa" OR "Congenital dyserythropoietic anemia type 4a" OR "CDA type IVa" OR "CDA type 4a" OR "CDA IV" OR "CDA due to KLF1 mutation" OR "CDA type 4" OR "CDA type IV" OR "CDAN4" OR "congenital dyserythropoietic anemia due to KLF1 mutation" OR "congenital dyserythropoietic anemia type 4" OR "dyserythropoietic anemia, congenital, type IV") OR ("KLF1" OR "KLF1 syndrome" OR "KLF1-related")

Run this search on Europe PMC

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

"Autosomal dominant KLF1-related dyserythropoietic anemia" OR "Congenital dyserythropoietic anemia type IVa" OR "Congenital dyserythropoietic anemia type 4a" OR "CDA type IVa" OR "CDA type 4a" OR "CDA IV" OR "CDA due to KLF1 mutation" OR "CDA type 4" OR "CDA type IV" OR "CDAN4" OR "congenital dyserythropoietic anemia due to KLF1 mutation" OR "congenital dyserythropoietic anemia type 4" OR "dyserythropoietic anemia, congenital, type IV"

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

Parent-category trials query:

"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 (3247) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:23:20.393Z