- Abnormal erythrocyte enzyme concentration or activity (HP:0030272): An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:447)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:447)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:447)
- Hemoglobinuria (HP:0003641): The presence of free hemoglobin in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:447)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:447)
- Thromboembolism (HP:0001907): The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Hemosiderinuria (HP:0012543): The presence of hemosiderin in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Conjunctival icterus (HP:0032106): Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Erythromelalgia (HP:0032147): Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Decreased circulating iron concentration (HP:0040303): The concentration of iron cation in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Pulmonary embolism (HP:0002204): An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Budd-Chiari syndrome (HP:0002639): Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Mesenteric venous thrombosis (HP:0030248): A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Odynophagia (HP:0032043): Pain experienced with swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:447)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:447)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:447)
- Esophageal spasms (HP:0025271): Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:447)
These phenotypes are associated with the disease Paroxysmal nocturnal hemoglobinuria (ORPHA:447).