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A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
Features include always present findings: Excessive bleeding from superficial cuts, Ecchymosis, Impaired clot retraction, and Impaired collagen-induced platelet aggregation and others. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 10 | Excessive bleeding from superficial cuts, Impaired platelet aggregation, Prolonged bleeding time |
Heart and blood vessels | 1 | Intracranial hemorrhage |
Digestive system | 1 | Gastrointestinal hemorrhage |
ITGA2B encodes integrin subunit alpha 2b (1,039 aa). Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Highest expression in Whole Blood (32.7 TPM) and Spleen (16.6 TPM).
Glanzmann thrombasthenia 1 is associated with mutations in the ITGA2B gene on chromosome 17.
The ITGA2B protein participates in RUNX1 and GATA1 bind the promoter of the ITGA2B gene, PRMT6 arginine methylates H3K4me2-Nucleosome at the ITGA2B gene promoter, and RUNX1:CBFB, SIN3A(SIN3B), PRMT6 and HDAC1 bind the ITGA2B promoter pathways.
ITGA2B is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 3.6.
Genetic testing for ITGA2B is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Glanzmann thrombasthenia 1 has been reported in the published literature.
Phenotype severity distribution: 9 always present features.
6 clinical trials registered, 4 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and biologic therapy. Pipeline includes 1 PHASE2, 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT00230165](https://clinicaltrials.gov/study/NCT00230165) | The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. | — | Rockefeller University | RECRUITING |
[NCT06820515](https://clinicaltrials.gov/study/NCT06820515) | ATHNdataset Registry | — | American Thrombosis and Hemostasis Network | RECRUITING |
[NCT06204042](https://clinicaltrials.gov/study/NCT06204042) | Multinational Glanzmann Study | — | UMC Utrecht | NOT_YET_RECRUITING |
[NCT06211634](https://clinicaltrials.gov/study/NCT06211634) | A Phase 1/2 Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of HMB-001 in Glanzmann Thrombasthenia | PHASE1 | Hemab ApS | ACTIVE_NOT_RECRUITING |
[NCT07136857](https://clinicaltrials.gov/study/NCT07136857) | Eptacog Beta in Glanzmann's (HeT_LFB-Strength-Study_FID531) | PHASE2 | Emory University | RECRUITING |
93 publications have been identified in PubMed for Glanzmann thrombasthenia 1. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 33 | 35% |
Disease patterns and progression | 20 | 22% |
Laboratory research | 13 | 14% |
Research summaries | 11 | 12% |
Testing and diagnosis research | 8 | 9% |
Other research | 3 |
Rutten KHG (2026). [PMID: 41403382](https://pubmed.ncbi.nlm.nih.gov/41403382/). *Haemophilia : the official journal of the World Federation of Hemophilia*. [Gene Therapy / Novel Therapeutics]
Rutten KHG (2026). [PMID: 41614558](https://pubmed.ncbi.nlm.nih.gov/41614558/). *Platelets*. [Basic Science / Preclinical]
Glonnegger H (2026). [PMID: 42082146](https://pubmed.ncbi.nlm.nih.gov/42082146/). *Hamostaseologie*. [Diagnostic / Biomarker]
Ben Lamine Z (2026). [PMID: 41955421](https://pubmed.ncbi.nlm.nih.gov/41955421/). *Lab Med*. [Review / Meta-Analysis]
Zibara V (2026). [PMID: 41874099](https://pubmed.ncbi.nlm.nih.gov/41874099/). *Hematol Rep*. [Review / Meta-Analysis]
Zhang Y (2026). [PMID: 41510763](https://pubmed.ncbi.nlm.nih.gov/41510763/). *Platelets*. [Case Report / Case Series]
Touré SA (2026). [PMID: 41630424](https://pubmed.ncbi.nlm.nih.gov/41630424/). *Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis*. [Epidemiology / Natural History]
Zaninetti C (2026). [PMID: 41791656](https://pubmed.ncbi.nlm.nih.gov/41791656/). *Journal of thrombosis and haemostasis : JTH*. [Diagnostic / Biomarker]
Quan ZR (2026). [PMID: 41846366](https://pubmed.ncbi.nlm.nih.gov/41846366/). *Zhongguo Shi Yan Xue Ye Xue Za Zhi*. [Diagnostic / Biomarker]
Tiwari SK (2026). [PMID: 41265828](https://pubmed.ncbi.nlm.nih.gov/41265828/). *Journal of pediatric and adolescent gynecology*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Glanzmann thrombasthenia 1
Clinical study results | 3 | 3% |
New treatment approaches | 2 | 2% |
AI-curated news mentioning Glanzmann thrombasthenia 1
Updated Apr 10, 2026
Hemab Therapeutics has filed for a $100 million IPO to advance its development of antibody-based therapies for blood coagulation disorders. The company is Phase 3-ready for its lead candidate, sutacimig (HMB-001), targeting Glanzmann thrombasthenia and Factor VII deficiency.