Glanzmann thrombasthenia 2
Findings
No curated finding names Glanzmann thrombasthenia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A platelet type bleeding disorder characterized by lifelong mucocutaneous bleeding, severely impaired platelet aggregation, and absent or markedly reduced clot retraction due to loss of αIIbβ3‑mediated fibrinogen binding. Platelet number and morphology are typically normal, but responses to physiologic agonists, such as ADP, collagen, epinephrine, and thrombin are severely diminished or absent, while ristocetin‑induced agglutination is preserved. Biallelic loss‑of‑function ITGB3 variants result in reduced or absent β3 integrin production, preventing assembly or surface expression of the αIIbβ3 receptor complex and producing the characteristic Glanzmann thrombasthenia phenotype.
Definition from the Mondo Disease Ontology (MONDO:0031009), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Abnormal bleedingHPOHP:0001892
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 11 of 11 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 40 of 40 reported patients
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 40 of 40 reported patients
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- 40 of 40 reported patients
- Menorrhagia
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 · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Glanzmann thrombasthenia 2
- Also called
- bleeding disorder, platelet-type, 23GT2ITGB3-related Glanzmann thrombasthenia