congenital dyserythropoietic anemia type 4
Findings
No curated finding names congenital dyserythropoietic anemia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.
Definition from the Mondo Disease Ontology (MONDO:0013355), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Juvenile onset · Fetal onset
HPO, annotations 2026-09-02
Features
29 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.
- AnemiaHPOHP:0001903
- 5 of 5 reported patients
- AnisocytosisHPOHP:0011273
- 2 of 2 reported patients
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 1 of 1 reported patient
- Decreased hemoglobin concentrationHPOHP:0020062
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 2 of 2 reported patients
- HypospadiasHPOHP:0000047
Show the remaining 17
- SchistocytosisHPOHP:0001981
- 1 of 1 reported patient
- Unconjugated hyperbilirubinemiaHPOHP:0008282
- 2 of 2 reported patients
- Weight lossHPOHP:0001824
- 1 of 1 reported patient
- Circulating nucleated red blood cellsHPOHP:0033281
- 3 of 4 reported patients
- Erythroid hyperplasiaHPOHP:0012132
- 3 of 4 reported patients
- Hemolytic anemiaHPOHP:0001878
- 2 of 3 reported patients
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.
- KLF1HGNC:6345
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: congenital dyserythropoietic anemia type 4
- Also called
- CDA due to KLF1 mutationCDA IVCDA type 4CDA type IVCDAN4congenital dyserythropoietic anemia due to KLF1 mutationdyserythropoietic anemia, congenital, type IV