- 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. Frequency: Very frequent (HP:0040281). (ORPHA:849)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:849)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:849)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:849)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:849)
- Prolonged bleeding following circumcision (HP:0030137): Bleeding that persists for a longer than usual time following circumcision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:849)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Spontaneous hematomas (HP:0007420): Spontaneous development of hematomas (hematoma) or bruises without significant trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Macroscopic hematuria (HP:0012587): Hematuria that is visible upon inspection of the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Ecchymosis (HP:0031364): A purpuric lesion that is larger than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- Menometrorrhagia (HP:0400008): Prolonged/excessive menses and bleeding at irregular intervals. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:849)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:849)
These phenotypes are associated with the disease Glanzmann thrombasthenia (ORPHA:849).
The following phenotypes are NOT associated with this disease:
- 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: TAS. (ORPHA:849)
- 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: TAS. (ORPHA:849)
- Impaired arachidonic acid-induced platelet aggregation (HP:0011870): Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. Evidence: TAS. (ORPHA:849)
- Impaired thrombin-induced platelet aggregation (HP:0011872): Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). Evidence: TAS. (ORPHA:849)
- Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894): Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. Evidence: TAS. (ORPHA:849)
- Impaired collagen-related peptide-induced platelet aggregation (HP:0031128): Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. Evidence: TAS. (ORPHA:849)