Phenotypes associated with the disease platelet-type bleeding disorder 15 (OMIM:615193):
- Increased mean platelet volume (HP:0011877): Average platelet volume above the upper limit of the normal reference interval. Evidence: PCS. Frequency: 13/13. (PMID:23434115)
- Impaired clot retraction (HP:0031126): Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. Evidence: PCS. Frequency: 0/1. (PMID:23434115)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 2/13. (PMID:23434115)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 13/13. (PMID:23434115)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:23434115)
- 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. Frequency: 0/6. (PMID:23434115)
- Platelet anisocytosis (HP:0032438): Abnormally increased variability in the size of platelets. Evidence: PCS. Frequency: 13/13. (PMID:23434115)