thrombocytopenia with congenital dyserythropoietic anemia
Findings
No curated finding names thrombocytopenia with congenital dyserythropoietic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.
Definition from the Mondo Disease Ontology (MONDO:0019031), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Very frequent (80% to 99% of cases)
- Abnormal megakaryocyte morphologyHPOHP:0012143
- Very frequent (80% to 99% of cases)
- Abnormality of multiple cell lineages in the bone marrowHPOHP:0012145
- Very frequent (80% to 99% of cases)
- Anemia of inadequate productionHPOHP:0010972
- Very frequent (80% to 99% of cases)
- AnisocytosisHPOHP:0011273
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
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.
- GATA1HGNC:4170
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
5 names
Resolves to: thrombocytopenia with congenital dyserythropoietic anemia
- Also called
- congenital dyserythropoietic anaemia with thombocytopeniacongenital dyserythropoietic anemia with thombocytopeniaX-linked congenital dyserythropoietic anaemia with thrombocytopeniaX-linked congenital dyserythropoietic anemia with thrombocytopeniaXDAT