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platelet-type bleeding disorder 12
Summary
- Synonym
-
- BDPLT12
- PGHS1 deficiency
- platelet COX1 deficiency
- platelet cyclooxygenase 1 deficiency
- platelet prostaglandin-endoperoxide synthase 1 deficiency
- Definition
- A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111058
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23219 | Prostaglandin G/H synthase 1 |
