Bleeding disorder, platelet-type, 24: genes and variants
Bleeding disorder, platelet-type, 24 is linked to 1 analyzed protein (ITGB3). 2 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Bleeding disorder, platelet-type, 24
ITGB3: Integrin beta-3
In platelets it pairs with ITGA2B to bind fibrinogen and mediate aggregation, while in other cells it forms integrins involved in matrix adhesion and signaling. Biallelic loss-of-function variants cause Glanzmann thrombasthenia.
2 disease-causing and 9 uncertain variants in ITGB3 are linked to Bleeding disorder, platelet-type, 24.
Known disease-causing variants in Bleeding disorder, platelet-type, 24
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ITGB3 R378C | 378 | Extracellular | Disease-causing (★) |
| ITGB3 D749H | 749 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Glanzmann thrombasthenia is also caused by ITGB3 variants; they fall mostly in different places as the Bleeding disorder, platelet-type, 24 variants (61 disease-causing).
Diseases related to Bleeding disorder, platelet-type, 24
- Hypertrophic cardiomyopathy, also linked to ITGB3
- Noonan syndrome, also linked to ITGB3
- Glanzmann thrombasthenia, also linked to ITGB3
- Costello syndrome, also linked to ITGB3
- Myocardial infarction, also linked to ITGB3
Frequently asked questions
Which genes are linked to Bleeding disorder, platelet-type, 24?
In CATVariant, Bleeding disorder, platelet-type, 24 is linked to 1 analyzed protein: ITGB3 (Integrin beta-3).
How many genetic variants are linked to Bleeding disorder, platelet-type, 24?
26 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Bleeding disorder, platelet-type, 24 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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