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platelet-type bleeding disorder 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 16

MONDO:0008552

Also known as:autosomal dominant Glanzmann thrombastheniaautosomal dominant thrombasthenia of Glanzmann and Naegelibleeding disorder, platelet-type, 16, autosomal dominant

Overview

An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.

GeneticsAutosomal dominant · ITGA2B (chr 17)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Giant platelets, Macrothrombocytopenia, Low platelet count (thrombocytopenia), and Platelet anisocytosis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Abnormal bleeding tendency (abnormal bleeding), Low red blood cell count (anemia), Impaired platelet aggregation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Platelet-type bleeding disorder 16 is caused by 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.

Diagnosis

Genetic testing for ITGA2B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for platelet-type bleeding disorder 16.

5 publications have been identified in PubMed for platelet-type bleeding disorder 16. Research spans Basic Science / Preclinical (60%) and Case Report / Case Series (40%).

Recent Publications

Wu J (2026). [PMID: 41503871](https://pubmed.ncbi.nlm.nih.gov/41503871/). *Journal of cellular and molecular medicine*. [Basic Science / Preclinical]
Bandini P (2026). [PMID: 41881807](https://pubmed.ncbi.nlm.nih.gov/41881807/). *Br J Haematol*. [Basic Science / Preclinical]
Alsharidah S (2026). [PMID: 42064390](https://pubmed.ncbi.nlm.nih.gov/42064390/). *Leuk Res Rep*. [Case Report / Case Series]
Ramaekers K (2026). [PMID: 42213640](https://pubmed.ncbi.nlm.nih.gov/42213640/). *Blood*. [Basic Science / Preclinical]
Montague SJ (2024). [PMID: 38492852](https://pubmed.ncbi.nlm.nih.gov/38492852/). *Journal of thrombosis and haemostasis : JTH*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:187800

Questions for Your Care Team

→Should I pursue genetic testing for ITGA2B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

platelet-type bleeding disorder 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments.

platelet-type bleeding disorder 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments.