anemia, congenital dyserythropoietic, type 1a
MONDO:0009135Mondo
Findings
No curated finding names anemia, congenital dyserythropoietic, type 1a 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
- Congenital onset
HPO, annotations 2026-09-02
Features
8 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.
- Bite cellsHPOHP:0020122
- 1 of 1 reported patient
- Erythroid hyperplasiaHPOHP:0012132
- 1 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- SchistocytosisHPOHP:0001981
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 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.
- CDAN1HGNC:1713
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: anemia, congenital dyserythropoietic, type 1a
- Also called
- anemia, congenital dyserythropoietic, type Ia