- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 11/11. (PMID:21917754;PMID:9845537)
- 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. Frequency: 1/1. (PMID:9845537)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: PCS. (PMID:20020534)
- 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: 35/37. (PMID:16463284)
- Impaired ristocetin-induced platelet aggregation (HP:0011871): Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. Evidence: PCS. Frequency: 0/40. (PMID:16463284)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 40/40. (PMID:16463284)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: PCS. (PMID:21917754)
- 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:2014236)
- 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. Frequency: 11/11. (PMID:21917754;PMID:9845537)
- Impaired epinephrine-induced platelet aggregation (HP:0008148): Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. Evidence: PCS. Frequency: 40/40. (PMID:16463284)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: PCS. (PMID:21917754)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. (PMID:21917754)
- Decreased platelet glycoprotein IIb-IIIa (HP:0001975): Decreased cell membrane concentration of glycoprotein IIb-IIIa. Evidence: PCS. Frequency: 21/27. (PMID:20020534;PMID:2014236)
- 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: 40/40. (PMID:16463284)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:9845537)
These phenotypes are associated with the disease Glanzmann thrombasthenia 2 (OMIM:619267).