- Abnormal mast cell morphology (HP:0100494): Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98850)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Constitutional symptom (HP:0025142): A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Increased CD25+ mast cell proportion (HP:0031408): An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Elevated total serum tryptase (HP:0031901): An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Abdominal cramps (HP:0032155): A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Anaphylactic shock (HP:0100845): An acute hypersensitivity reaction due to exposure to a previously encountered antigen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98850)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- 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:98850)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Hematological neoplasm (HP:0004377): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98850)
These phenotypes are associated with the disease Aggressive systemic mastocytosis (ORPHA:98850).