Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

platelet-type von Willebrand disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type von Willebrand disease

MONDO:0008332

Also known as:BDPLT3PT-VWDpseudo-von Willebrand disease

Overview

A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.

GeneticsAutosomal dominant · GP1BA (chr 17)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Prolonged bleeding time and Intermittent thrombocytopenia.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Prolonged bleeding time, Intermittent thrombocytopenia

Explore clinical features

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.

GP1BA encodes glycoprotein Ib platelet subunit alpha (652 aa). GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium Highest expression in Skin Sun Exposed Lower leg (4.2 TPM) and Skin Not Sun Exposed Suprapubic (4.0 TPM).

Platelet-type von Willebrand disease is caused by mutations in the GP1BA gene on chromosome 17.

The GP1BA protein participates in GP1BA variant:GP1BB:GP9, GP1BA variant:GP1BB:GP9:GP5, and RUNX1:CBFB:SIN3A,(SIN3B):PRMT6:HDAC1:GP1BA gene:H3K4me2-Nucleosome pathways.

GP1BA is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 4.7.

Diagnosis

Genetic testing for GP1BA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 von Willebrand disease.

8 publications have been identified in PubMed for platelet-type von Willebrand disease. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Epidemiology / Natural History (14%).

Recent Publications

Kazmirchuk TDD (2026). [PMID: 40938733](https://pubmed.ncbi.nlm.nih.gov/40938733/). *Blood Adv*. [Gene Therapy / Novel Therapeutics]
Huguenin Y (2026). [PMID: 41734779](https://pubmed.ncbi.nlm.nih.gov/41734779/). *Semin Thromb Hemost*. [Case Report / Case Series]
Fu A (2025). [PMID: 39191406](https://pubmed.ncbi.nlm.nih.gov/39191406/). *Semin Thromb Hemost*. [Review / Meta-Analysis]
Othman M (2025). [PMID: 40328428](https://pubmed.ncbi.nlm.nih.gov/40328428/). *J Thromb Haemost*. [Review / Meta-Analysis]
Seidizadeh O (2025). [PMID: 39975577](https://pubmed.ncbi.nlm.nih.gov/39975577/). *Res Pract Thromb Haemost*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:177820

Orphanet

European rare disease database

Orphanet:52530

GARD

Genetic and Rare Diseases Info Center

GARD:8312

Questions for Your Care Team

→Should I pursue genetic testing for GP1BA, 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?

← Back to All Diseases

Kisho

platelet-type von Willebrand disease

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Comprehensive Dental Management Under General Anesthesia in a Pediatric Patient With Type 3 von Willebrand Disease: A Case Report.

Platelet Type Von Willebrand Disease - Diagnostic and Therapeutic Challenges.

Type 3 Von Willebrand disease: two clinical cases of a rare disorder.

platelet-type von Willebrand disease

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Comprehensive Dental Management Under General Anesthesia in a Pediatric Patient With Type 3 von Willebrand Disease: A Case Report.

Platelet Type Von Willebrand Disease - Diagnostic and Therapeutic Challenges.

Type 3 Von Willebrand disease: two clinical cases of a rare disorder.