platelet-type bleeding disorder 15
Findings
No curated finding names platelet-type bleeding disorder 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene, characterized by mild thrombocytopenia, enlarged platelets, and platelet anisocytosis, with most individuals exhibiting no bleeding or only mild epistaxis. Human platelet studies show normal aggregation, clot retraction, and spreading, indicating that bleeding symptoms arise from reduced platelet mass rather than functional defects. Missense variants in ACTN1 disrupt actin-filament organization in megakaryocytes, producing fewer and larger proplatelet tips and resulting in macrothrombocytopenia.
Definition from the Mondo Disease Ontology (MONDO:0014078), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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
- 13 of 13 reported patients
- Platelet anisocytosisHPOHP:0032438
- 13 of 13 reported patients
- ThrombocytopeniaHPOHP:0001873
- 13 of 13 reported patients
- EpistaxisHPOHP:0000421
- 2 of 13 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 0 of 6 reported patients
- Impaired clot retractionHPO
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.
- ACTN1HGNC:163
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: platelet-type bleeding disorder 15
- Also called
- ACTN1 inherited bleeding disorder, platelet-typeACTN1-related macrothrombocytopeniaBDPLT15inherited bleeding disorder, platelet-type caused by mutation in ACTN1