thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Findings
No curated finding names thrombocytopenia, X-linked, with or without dyserythropoietic anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
Definition from the Mondo Disease Ontology (MONDO:0010308), read 2026-09-29. CC BY 4.0.
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
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Moderate · Genomics England PanelApp · X-linked · 2020
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- Also called
- thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessiveX-linked thrombocytopenia, with or without dyserythropoietic AnaemiaX-linked thrombocytopenia, with or without dyserythropoietic Anemia