congenital dyserythropoietic anemia type type 1B
MONDO:0014285Mondo
Findings
No curated finding names congenital dyserythropoietic anemia type type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Anemia of inadequate productionHPOHP:0010972
- 3 of 3 reported patients
- Multinucleated erythroblastHPOHP:0034278
- 3 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.
- CDIN1HGNC:26929
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: congenital dyserythropoietic anemia type type 1B
- Also called
- anemia, congenital dyserythropoietic, type IBdyserythropoietic anemia, congenital, type IB