platelet-type bleeding disorder 16
Findings
No curated finding names platelet-type bleeding disorder 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
Definition from the Mondo Disease Ontology (MONDO:0008552), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Giant plateletsHPOHP:0001902
- 5 of 5 reported patients
- MacrothrombocytopeniaHPOHP:0040185
- 5 of 5 reported patients
- Platelet anisocytosisHPOHP:0032438
- 5 of 5 reported patients
- ThrombocytopeniaHPOHP:0001873
- 5 of 5 reported patients
Genes
2 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.
- ITGA2BHGNC:6138
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- ITGB3HGNC:6156
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: platelet-type bleeding disorder 16
- Also called
- bleeding disorder, platelet-type, 16, autosomal dominant