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congenital dyserythropoietic anemia type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Digestive system	3	Cholelithiasis, Jaundice, Enlarged spleen (splenomegaly)
Blood and immune system	3	Anemia of inadequate production, Increased immature red blood cells (reticulocytosis), Enlarged spleen (splenomegaly)
Bones and joints	1	Endopolyploidy on chromosome studies of bone marrow
Prenatal/birth	1	Anemia of inadequate production

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital dyserythropoietic anemia type 2.

133 publications have been identified in PubMed for congenital dyserythropoietic anemia type 2. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (22%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	44	33%
Research summaries	29	22%
Patient case studies	17	13%
Disease patterns and progression	16	12%
Clinical study results	15	11%
Other research	4	3%
Testing and diagnosis research	4	3%
New treatment approaches	4	3%

Recent Publications

Unknown (2026). [PMID: 42160641](https://pubmed.ncbi.nlm.nih.gov/42160641/). *Unknown Journal*. [Review / Meta-Analysis]
Gohary AE (2026). [PMID: 42149207](https://pubmed.ncbi.nlm.nih.gov/42149207/). *Pediatr Nephrol*. [Case Report / Case Series]
Unknown (2026). [PMID: 42118871](https://pubmed.ncbi.nlm.nih.gov/42118871/). *Unknown Journal*. [Review / Meta-Analysis]
Zhuang T (2026). [PMID: 41258833](https://pubmed.ncbi.nlm.nih.gov/41258833/). *The Journal of hand surgery*. [Review / Meta-Analysis]
Black SKP (2026). [PMID: 41634173](https://pubmed.ncbi.nlm.nih.gov/41634173/). *Diabetologia*. [Case Report / Case Series]
Hogan MF (2026). [PMID: 42159696](https://pubmed.ncbi.nlm.nih.gov/42159696/). *Diabetologia*. [Basic Science / Preclinical]
Amarasingha D (2026). [PMID: 41857086](https://pubmed.ncbi.nlm.nih.gov/41857086/). *Sci Rep*. [Epidemiology / Natural History]
Yu L (2026). [PMID: 41880517](https://pubmed.ncbi.nlm.nih.gov/41880517/). *Sci Transl Med*. [Basic Science / Preclinical]
Unknown (2026). [PMID: 42150011](https://pubmed.ncbi.nlm.nih.gov/42150011/). *Unknown Journal*. [Review / Meta-Analysis]
Ehrlich AM (2026). [PMID: 41549724](https://pubmed.ncbi.nlm.nih.gov/41549724/). *Spine*. [Basic Science / Preclinical]

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congenital dyserythropoietic anemia type 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

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congenital dyserythropoietic anemia type 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team