Phenotypes associated with the disease von Willebrand disease 3 (OMIM:277480):
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. (OMIM:277480)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. (OMIM:277480)
- Reduced factor VIII activity (HP:0003125): Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. Evidence: PCS. Frequency: 1/1. (PMID:2297569)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: IEA. (OMIM:277480)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: TAS. (OMIM:277480)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:277480)
- Reduced von Willebrand factor activity (HP:0008330): Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. Evidence: PCS. Frequency: 1/1. (PMID:2297569)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:2297569)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. (OMIM:277480)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. (OMIM:277480)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: IEA. (OMIM:277480)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. (OMIM:277480)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. (OMIM:277480)