- Hemoperitoneum (HP:0011854): Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
- Intramuscular hematoma (HP:0012233): Blood clot formed within muscle tissue following leakage of blood into the tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
- Epidural hemorrhage (HP:0100310): Hemorrhage occurring between the dura mater and the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Prolonged bleeding after surgery (HP:0004846): Bleeding that persists longer than the normal time following a surgical procedure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Decreased circulating plasminogen concentration (HP:0040228): The concentration of plasminogen in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Decreased level of tissue plasminogen activator (HP:0040230): The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Reduced alpha-2-antiplasmin activity (HP:0040245): Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Reduced plasminogen activator inhibitor 1 activity (HP:0040248): Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Reduced plasminogen activator inhibitor 1 antigen (HP:0040249): Reduced level of plasminogen activator inhibitor 1 antigen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:465)
- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:465)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:465)
- Subcutaneous hemorrhage (HP:0001933): This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:465)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:465)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Prolonged bleeding after dental extraction (HP:0006298): Prolonged bleeding post dental extraction sufficient to require medical intervention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Post-partum hemorrhage (HP:0011891): Significant maternal hemorrhage/blood loss following deilvery of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Umbilical cord hematoma (HP:0030657): Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Oral bleeding (HP:0040184). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:465)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
- Myocardial fibrosis (HP:0001685): Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
- Joint hemorrhage (HP:0005261): Hemorrhage occurring within a joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:465)
These phenotypes are associated with the disease Congenital plasminogen activator inhibitor type 1 deficiency (ORPHA:465).
The following phenotypes are NOT associated with this disease:
- Spontaneous hematomas (HP:0007420): Spontaneous development of hematomas (hematoma) or bruises without significant trauma. Evidence: TAS. (ORPHA:465)