congenital dyserythropoietic anemia type 2
Findings
No curated finding names congenital dyserythropoietic anemia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.
Definition from the Mondo Disease Ontology (MONDO:0009134), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Infantile onset · Middle age onset · Juvenile onset · Young adult onset · 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.
- ReticulocytosisHPOHP:0001923
- 19 of 33 reported patients
- Anemia of inadequate productionHPOHP:0010972
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.
- SEC23BHGNC:10702
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: congenital dyserythropoietic anemia type 2
- Also called
- CDA IICDA type 2CDA type IIdyserythropoietic anemia, congenital, type IIhereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)SEC23B-CDG