Phenotypes associated with the disease Acquired hemophagocytic lymphohistiocytosis associated with malignant disease (ORPHA:158057, an Orphanet rare-disease identifier):
- Abnormal circulating interleukin concentration (HP:0011117, a Human Phenotype Ontology term): The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Hematological neoplasm (HP:0004377, a Human Phenotype Ontology term): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Hypofibrinogenemia (HP:0011900, a Human Phenotype Ontology term): Decreased concentration of fibrinogen in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Increased circulating lactate dehydrogenase concentration (HP:0025435, a Human Phenotype Ontology term): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Hepatic failure (HP:0001399, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Hepatosplenomegaly (HP:0001433, a Human Phenotype Ontology term): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Myelodysplasia (HP:0002863, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:158057)
- Increased CSF protein concentration (HP:0002922, a Human Phenotype Ontology term): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Acute myeloid leukemia (HP:0004808, a Human Phenotype Ontology term): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Disseminated intravascular coagulation (HP:0005521, a Human Phenotype Ontology term): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Acute lymphoblastic leukemia (HP:0006721, a Human Phenotype Ontology term): A form of acute leukemia characterized by excess lympoblasts. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Multiple myeloma (HP:0006775, a Human Phenotype Ontology term): A malignant plasma cell tumor growing within soft tissue or within the skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Hodgkin lymphoma (HP:0012189, a Human Phenotype Ontology term): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- T-cell lymphoma (HP:0012190, a Human Phenotype Ontology term): A type of lymphoma that originates in T-cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- B-cell lymphoma (HP:0012191, a Human Phenotype Ontology term): A type of lymphoma that originates in B-cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- CSF pleocytosis (HP:0012229, a Human Phenotype Ontology term): An increased white blood cell count in the cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Persistent EBV viremia (HP:0020072, a Human Phenotype Ontology term): Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Burkitt lymphoma (HP:0030080, a Human Phenotype Ontology term): A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:158057)
- Hepatocellular carcinoma (HP:0001402, a Human Phenotype Ontology term): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Nephroblastoma (HP:0002667, a Human Phenotype Ontology term): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Squamous cell carcinoma (HP:0002860, a Human Phenotype Ontology term): The presence of squamous cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Colon cancer (HP:0003003, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Prostate cancer (HP:0012125, a Human Phenotype Ontology term): A cancer of the prostate. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Neoplasm of the lung (HP:0100526, a Human Phenotype Ontology term): Tumor of the lung. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:158057)
- Hemophagocytosis (HP:0012156, a Human Phenotype Ontology term): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:158057)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Immune dysregulation (HP:0002958, a Human Phenotype Ontology term): Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Increased circulating ferritin concentration (HP:0003281, a Human Phenotype Ontology term): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Elevated circulating C-reactive protein concentration (HP:0011227, a Human Phenotype Ontology term): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Abnormal renal physiology (HP:0012211, a Human Phenotype Ontology term): An abnormal functionality of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Reduced total natural killer cell count (HP:0040218, a Human Phenotype Ontology term): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:158057)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): 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: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Hypertriglyceridemia (HP:0002155, a Human Phenotype Ontology term): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)
- Hyperbilirubinemia (HP:0002904, a Human Phenotype Ontology term): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:158057)