autosomal dominant macrothrombocytopenia
MONDO:0015372Mondo
Findings
No curated finding names autosomal dominant macrothrombocytopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
Definition from the Mondo Disease Ontology (MONDO:0015372), 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.
- Increased mean platelet volumeHPOHP:0011877
- Very frequent (80% to 99% of cases)
- MacrothrombocytopeniaHPOHP:0040185
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Platelet anisocytosisHPOHP:0032438
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- MetrorrhagiaHPOHP:0100608
- Occasional (5% to 29% of cases)
- Prolonged bleeding after dental extractionHPOHP:0006298
- Occasional (5% to 29% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Occasional (5% to 29% of cases)
Genes
10 genes
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.
- GP1BBHGNC:4440
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ACTN1HGNC:163
- Supportive · Orphanet · Autosomal dominant · 2021
- GFI1BHGNC:4238
- Supportive · Orphanet · Autosomal dominant · 2021
- GP1BAHGNC:4439
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGA2BHGNC:6138
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of