thrombocytopenia 1
MONDO:0010743Mondo
Findings
No curated finding names thrombocytopenia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked 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.
- Congenital thrombocytopeniaHPOHP:0001905
- 3 of 3 reported patients
- Decreased mean platelet volumeHPOHP:0005537
- 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.
- WASHGNC:12731
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: thrombocytopenia 1
- Also called
- thrombocytopenia type 1thrombocytopenia, X-linked, intermittent, X-linked recessivethrombocytopenia, X-linked, X-linked recessiveX-linked thrombocytopenia with normal platelets