Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
MONDO:0030711Mondo
Findings
No curated finding names Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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.
- Macrocytic anemiaHPOHP:0001972
- 1 of 1 reported patient
- Macrocytic dyserythropoietic anemiaHPOHP:0005532
- 1 of 1 reported patient
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.
- RACGAP1HGNC:9804
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
- Also called
- anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessiveCDA, IIA IIIBCDAN3B