Phenotypes associated with the disease Essential thrombocythemia (ORPHA:3318):
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3318)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3318)
- 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: Very frequent (HP:0040281). (ORPHA:3318)
- Abnormality of thrombocytes (HP:0001872): An abnormality of platelets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- 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:3318)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Increased megakaryocyte count (HP:0005513): Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Abnormal bone marrow cell morphology (HP:0005561): An anomaly of the form or number of cells in the bone marrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Abnormal platelet morphology (HP:0011875): An anomaly in platelet form, ultrastructure, or intracellular organelles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Megakaryocyte nucleus hyperlobulation (HP:0031388): The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Amaurosis fugax (HP:0100576): A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3318)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3318)
- 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:3318)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3318)
- Insomnia (HP:0100785): Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3318)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- 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: Occasional (HP:0040283). (ORPHA:3318)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- Acute leukemia (HP:0002488): A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- Myelofibrosis (HP:0011974): Replacement of bone marrow by fibrous tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- Hepatic vein thrombosis (HP:0030243): An obstruction in the veins of the liver caused by a blood clot (thrombosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3318)
- 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: Occasional (HP:0040283). (ORPHA:3318)