platelet-type bleeding disorder 11
Findings
No curated finding names platelet-type bleeding disorder 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene, the gene encoding platelet glycoprotein VI (GPVI), a critical collagen receptor. Affected individuals typically have mild to moderate bleeding, including epistaxis, easy bruising, menorrhagia, or postsurgical bleeding, despite normal platelet morphology. Laboratory findings include absent or markedly reduced GPVI expression, defective platelet activation and aggregation in response to collagen, prolonged bleeding time, and impaired collagen binding.
Definition from the Mondo Disease Ontology (MONDO:0013623), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EcchymosisHPOHP:0031364
- 1 of 1 reported patient
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 1 of 1 reported patient
- Prolonged bleeding timeHPOHP:0003010
- 1 of 1 reported patient
- Abnormal platelet countHPOHP:0011873
- 0 of 1 reported patient
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GP6HGNC:14388
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: platelet-type bleeding disorder 11
- Also called
- BDPLT11GP6 inherited bleeding disorder, platelet-typeGP6-related platelet disorderinherited bleeding disorder, platelet-type caused by mutation in GP6