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P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
Features include: Abnormal bleeding tendency (abnormal bleeding), Ecchymosis, Bruising susceptibility, and Persistent bleeding after trauma and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Abnormal bleeding tendency (abnormal bleeding), Persistent bleeding after trauma, Prolonged bleeding after surgery |
P2RY12 encodes purinergic receptor P2Y12 (342 aa). Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation Highest expression in Brain Spinal cord cervical c-1 (20.6 TPM) and Brain Substantia nigra (12.8 TPM).
Platelet-type bleeding disorder 8 has been associated with mutations in the P2RY12 gene on chromosome 3.
The P2RY12 protein participates in P2RY12:P2RY12 antagonists pathway.
P2RY12 is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 9.8.
Genetic testing for P2RY12 is available. Testing is considered supportive for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for platelet-type bleeding disorder 8.
13 publications have been identified in PubMed for platelet-type bleeding disorder 8. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (23%), and Epidemiology / Natural History (23%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 4 | 31% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies
3 |
23% |
Disease patterns and progression | 3 | 23% |
Research summaries | 2 | 15% |
Clinical study results | 1 | 8% |
Dhalla NS (2026). [PMID: 42034309](https://pubmed.ncbi.nlm.nih.gov/42034309/). *J Mol Cell Cardiol*. [Epidemiology / Natural History]
Mohamed OE (2026). [PMID: 41115590](https://pubmed.ncbi.nlm.nih.gov/41115590/). *Neuropharmacology*. [Basic Science / Preclinical]
Snyder MH (2026). [PMID: 41391599](https://pubmed.ncbi.nlm.nih.gov/41391599/). *World Neurosurg*. [Clinical Trial Publication]
Luo Z (2026). [PMID: 41891871](https://pubmed.ncbi.nlm.nih.gov/41891871/). *FASEB J*. [Basic Science / Preclinical]
Camera M (2026). [PMID: 42214306](https://pubmed.ncbi.nlm.nih.gov/42214306/). *Curr Opin Immunol*. [Review / Meta-Analysis]
Aryal S (2025). [PMID: 41040832](https://pubmed.ncbi.nlm.nih.gov/41040832/). *Clin Case Rep*. [Case Report / Case Series]
Shi H (2025). [PMID: 40670064](https://pubmed.ncbi.nlm.nih.gov/40670064/). *Neurosciences (Riyadh)*. [Epidemiology / Natural History]
Zamora-Cánovas A (2025). [PMID: 41463295](https://pubmed.ncbi.nlm.nih.gov/41463295/). *Biomolecules*. [Basic Science / Preclinical]
Dard R (2025). [PMID: 41167409](https://pubmed.ncbi.nlm.nih.gov/41167409/). *Eur J Pharmacol*. [Basic Science / Preclinical]
Rodríguez-Alén A (2025). [PMID: 41301446](https://pubmed.ncbi.nlm.nih.gov/41301446/). *Biomolecules*. [Review / Meta-Analysis]
AI-curated news mentioning platelet-type bleeding disorder 8
Updated Apr 28, 2026
Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. ... The value of IPOs so far this year suggests the sector is winning the battle against macroeconomic policy shifts in the US. Credit: Billion Photos/Shutterstock.com. Seaport Therapeutics and Hemab Therapeutics have both outlined pricings for their respective initial public offerings (IPOs), adding to an already busy month for biotechs making the public jump. Sutacimig, also known as HMB-001, is set to command most of the IPO funds. Around $120m will be put towards the asset’s clinical development in the two bleeding disorders. Around $60m will be used to advance clinical development of HMB-002, the biotech’s monovalent antibody in Phase I/II development for the subcutaneous prophylactic treatment of Von Willebrand Disease. GlyphAllo, also known as SPT-300, has been designed using Seaport’s Glyph platform, which the biotech says overcomes bioavailability and first-pass metabolism limitations. These hurdles have historically plagued treatments targeted against neuropsychiatric disorders. Seaport’s platform employs the lymphatic system’s natural lipid absorption and transport process to bypass the liver, which should also help reduce hepatotoxicity. Around $121m of the IPO raise will help fund GlyphAllo through a Phase IIb trial (NCT07065240) and into Phase III development. Seaport, a biotech developing treatments in the neuropsychiatric space, is offering 11.8 million shares priced between $16 and $18 each on the Nasdaq. If the IPO settles in the midpoint of this range, the biotech estimates net proceeds of $183.5m, which could rise by a further $27.9m based on the underwriters’ option.