ORPHA:98873
Congenital dyserythropoietic anemia type II
Also known as: CDA II · CDA type 2 · CDA type II · Congenital dyserythropoietic anemia type 2 · Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) · SEC23B-CDG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
512
Trials
0
Interventional, condition-specific
Researchers
1,094
Distinct authors in sample
Gene link
SEC23B
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of dyserythropoietic anemia characterized by anemia, jaundice, , gallstones, and often iron overload.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009134
- OMIM:224100
- UMLS:C1306589
Additional Mondo synonyms (3)
congenital dyserythropoietic anemia type 2 · dyserythropoietic anemia, congenital, type II · hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SEC23B
- LiteraturePresent
512 matched papers (207 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (SEC23B).
GenCC classification: Definitive.
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?
512
512 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.
512 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).
207 in the last 10 years · low confidence
Phrase hits: 512 · MeSH hits: 0
Who's working on it?
1,094
Distinct author names in 200 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.
- 01Iolascon A35 papers · 2026
Dipartimento di Biomedicina dell'Età Evolutiva, Università di Bari, Italy.
Papers in Europe PMC - 02Russo R26 papers · 2026
CEINGE Biotecnologie Avanzate, University Federico II of Naples, Naples, Italy.
Papers in Europe PMC - 03Andolfo I15 papers · 2026
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy.
Papers in Europe PMC - 04Perrotta S15 papers · 2026
Dipartimento di Pediatria, Seconda Università degli Studi di Napoli, Naples, Italy.
Papers in Europe PMC - 05Khoriaty R10 papers · 2026
Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 06Heimpel H9 papers · 2018
Abteilung Innere Medizin III (Hematology/Oncology) der Universität Ulm, Robert Koch Str 8, D-89081 Ulm, Germany. hermann.heimpel@medizin.uni-ulm.de
Papers in Europe PMC - 07Bianchi P8 papers · 2026
Unità Operativa Semplice (UOS) Fisiopatologia delle Anemie, Unità Operativa Complessa (UOC) Ematologia, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 08Delaunay J8 papers · 2011
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 - 09Esposito MR8 papers · 2013Papers in Europe PMC
- 10Gambale A8 papers · 2019
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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
- NCT07471516·RECRUITING·Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia
Conditions: Congenital Dyserythropoietic Anemia (CDA)·Matched via name phrase
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 2026-07-26This 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 II" OR "CDA II" OR "CDA type 2" OR "CDA type II" OR "Congenital dyserythropoietic anemia type 2" OR "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" OR "SEC23B-CDG" OR "dyserythropoietic anemia, congenital, type II"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital dyserythropoietic anemia type II" OR "CDA II" OR "CDA type 2" OR "CDA type II" OR "Congenital dyserythropoietic anemia type 2" OR "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" OR "SEC23B-CDG" OR "dyserythropoietic anemia, congenital, type II" OR "SEC23B" OR "congenital anemia" OR "familial hemolytic anemia"
Recall-expansion terms: SEC23B, congenital anemia, familial hemolytic anemia
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: suspect — strategies attempted: phrase, recall-expansion; 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 (512) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:38:39.955Z