Phenotypes associated with the disease platelet-type bleeding disorder 8 (OMIM:609821):
- 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: PCS. (PMID:20966167)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: IEA. (OMIM:609821)
- 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:20966167)
- 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: PCS. (PMID:1333302)
- Persistent bleeding after trauma (HP:0001934). Evidence: PCS. (PMID:20966167)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: PCS. (PMID:20966167)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. (PMID:10816552)
- Impaired ADP-induced platelet aggregation (HP:0004866): Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. Evidence: PCS. (PMID:20966167)