X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
MONDO:0010444Mondo
Findings
No curated finding names X-linked dyserythropoetic anemia with abnormal platelets and neutropenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile 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.
- AnisocytosisHPOHP:0011273
- 8 of 8 reported patients
- Impaired platelet aggregationHPOHP:0003540
- 2 of 2 reported patients
- Macrocytic anemiaHPOHP:0001972
- 8 of 8 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 6 of 8 reported patients
- PoikilocytosisHPOHP:0004447
- 6 of 8 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 5 of 8 reported patients
- ThrombocytopeniaHPOHP:0001873
- 0 of 8 reported patients
- ElliptocytosisHPOHP:0004445
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
1 name
Resolves to: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
- Also called
- anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive