bleeding disorder, platelet-type, 24
MONDO:0030996Mondo
Findings
No curated finding names bleeding disorder, platelet-type, 24 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 6 of 6 reported patients
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 2 of 2 reported patients
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 5 of 5 reported patients
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- 2 of 2 reported patients
- Increased mean platelet volumeHPOHP:0011877
- 8 of 8 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- Platelet anisocytosisHPOHP:0032438
- 15 of 15 reported patients
- ThrombocytopeniaHPOHP:0001873
- 15 of 15 reported patients
- Abnormal bleedingHPOHP:0001892
- 10 of 15 reported patients
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- 0 of 2 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.
- ITGB3HGNC:6156
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
3 names
Resolves to: bleeding disorder, platelet-type, 24
- Also called
- BDPLT24bleeding disorder, platelet-type, 24, autosomal dominantGlanzmann Thrombasthenia-Like With Macrothrombocytopenia 2