congenital dyserythropoietic anemia type 3
Findings
No curated finding names congenital dyserythropoietic anemia type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.
Definition from the Mondo Disease Ontology (MONDO:0007109), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 25 of 25 reported patients
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 25 of 25 reported patients
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- AnisocytosisHPOHP:0011273
- Very frequent (80% to 99% of cases)
- PoikilocytosisHPOHP:0004447
- Very frequent (80% to 99% of cases)
- Abnormal cellular phenotypeHPOHP:0025354
- Frequent (30% to 79% of cases)
Show the remaining 10
- Increased total iron binding capacityHPOHP:0025196
- Frequent (30% to 79% of cases)
- Abnormal erythrocyte morphologyHPOHP:0001877
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
- Gingival bleedingHPOHP:0000225
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- MelenaHPOHP:0002249
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIF23HGNC:6392
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
4 names
Resolves to: congenital dyserythropoietic anemia type 3
- Also called
- CDA IIICDA type 3CDA type IIIdyserythropoietic anemia, congenital, type III