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platelet-type bleeding disorder 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 11

MONDO:0013623

Also known as:BDPLT11GP VI deficiencyGP6 inherited bleeding disorder, platelet-type

Overview

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.

GeneticsAutosomal recessive · GP6 (chr 19)

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: Prolonged bleeding time, Impaired collagen-induced platelet aggregation, and Ecchymosis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Impaired collagen-induced platelet aggregation

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.

GP6 encodes glycoprotein VI platelet (339 aa). Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation.

Platelet-type bleeding disorder 11 is caused by mutations in the GP6 gene on chromosome 19.

GP6 is classified as a druggable target (Cell Surface and Kinase categories) with score 26.1.

Diagnosis

Genetic testing for GP6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for platelet-type bleeding disorder 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 11.

5 publications have been identified in PubMed for platelet-type bleeding disorder 11. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Othman M (2025). [PMID: 40328428](https://pubmed.ncbi.nlm.nih.gov/40328428/). *Journal of thrombosis and haemostasis : JTH*. [Review / Meta-Analysis]
do Nascimento MF (2025). [PMID: 39953195](https://pubmed.ncbi.nlm.nih.gov/39953195/). *Scientific reports*. [Diagnostic / Biomarker]
Broojerdi MH (2025). [PMID: 40651280](https://pubmed.ncbi.nlm.nih.gov/40651280/). *Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis*. [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 7 of 12 sources · Last updated Sep 17, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614201

Orphanet

European rare disease database

Orphanet:98885

GARD

Genetic and Rare Diseases Info Center

GARD:13293

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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platelet-type bleeding disorder 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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