RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98869

Congenital dyserythropoietic anemia type I

medium confidenceDisorder

Also known as: CDA I · CDA type 1 · CDA type I · Congenital dyserythropoietic anemia type 1

Publications

369

66.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,143

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of dyserythropoietic anemia (CDA) characterized by moderate to severe anemia, often macrocytic, occasionally associated with malformations, primarily affecting the distal extremities.

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 (1)

congenital dyserythropoietic anemia type 1

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

    369 matched papers (177 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Short stature; Syndactyly; Pallor) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

35

Associated phenotypes · MONDO:0020337

  • Short stature
  • Syndactyly
  • Pallor
  • Hepatomegaly
  • Anemia of inadequate production

Showing 5 of 35 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

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?

369

369 papers have ever been published on this condition (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=3967) is 59.

369 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).

177 in the last 10 years · medium confidence · 66.1th percentile (publications denominator)

Phrase hits: 369 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,143

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
    Tamary H28 papers · 2025

    Paediatric Haematology Laboratory, Felsenstein Medical Research Centre, Beilinson Campus, Petah Tiqva and Sackler Faculty of Medicine, Tel Aviv University, Israel. htamary@post.tau.ac.il

    Papers in Europe PMC
  2. 02
    Shalev H19 papers · 2020

    Division of Pediatrics, Soraka Medical Center, Beer Sheva, Israel

    Papers in Europe PMC
  3. 03
    Iolascon A16 papers · 2024

    Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Italy achille.iolascon@unina.it.

    Papers in Europe PMC
  4. 04
    Kapelushnik J13 papers · 2026

    a Pediatric Hematology , Soroka University Medical Center, Ben-Gurion University , Beer Sheva , Israel.

    Papers in Europe PMC
  5. 05
    Russo R11 papers · 2024

    Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Italy.

    Papers in Europe PMC
  6. 06
    Andolfo I10 papers · 2024

    Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Italy.

    Papers in Europe PMC
  7. 07
    Dgany O9 papers · 2021

    Pediatric Hematology Laboratory, Felsenstein Research Center, Rabin Medical Center, Petah Tikva, Israel.

    Papers in Europe PMC
  8. 08
    Babbs C8 papers · 2026

    Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

    Papers in Europe PMC
  9. 09
    Delaunay J7 papers · 2009

    INSERM U 779, Secteur Paul-Broca, 78 rue du Général-Leclerc, Hôpital de Bicêtre, 94275 Le Kremlin-Bicêtre (France) E-mail:

    Papers in Europe PMC
  10. 10
    Higgs DR6 papers · 2026

    MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 1 trial 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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: congenital dyserythropoietic anemia

1

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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 I — 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 I" OR "CDA I" OR "CDA type 1" OR "CDA type I" OR "Congenital dyserythropoietic anemia type 1"

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 I" OR "CDA I" OR "CDA type 1" OR "CDA type I" OR "Congenital dyserythropoietic anemia type 1"

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: 1 interventional · 1 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 (369) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T05:37:59.614Z