{"Name":"Macrophage activation syndrome","DiseaseID__c":"GARD:0012124","id":12124,"encodedName":"macrophage-activation-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Macrophage activation syndrome","Xref_IDs__c":"430478003; C1096155; C114471; D055501; MEDGEN:242753; MONDO:0015545; ORPHA:158061","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015545","Disease_Description__c":"A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.","GARD_Name__c":"Macrophage activation syndrome","GARD_Synonym__c":"hemophagocytic lymphohistiocytosis with rheumatologic disease; mas; reactive hemophagocytic lymphohistiocytosis","Curated_Disease_Description_Source__c":"MONDO:0015545","Curated_Disease_Description__c":"A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:158061","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015545","ORPHANET_ID__c":"ORPHA:158061","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de activación macrofágica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de activación macrofágica","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98023","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.","Curated_Disease_Description_Source__c":"MONDO:0015545","GARD_Synonym__c":"hemophagocytic lymphohistiocytosis with rheumatologic disease; mas; reactive hemophagocytic lymphohistiocytosis","Name":"Macrophage activation syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Rare Autoinflammatory Conditions Community - UK","Website__c":"https://www.raccuk.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:158061"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:158061"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:158061"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1096155"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/158061","Source__c":"C1096155; MONDO:0015545; ORPHA:158061","Xref__c":"ORPHA:158061"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055501","Source__c":"C1096155; MONDO:0015545","Xref__c":"D055501"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C114471","Source__c":"C1096155; MONDO:0015545","Xref__c":"C114471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=242753","Source__c":"C1096155","Xref__c":"MEDGEN:242753"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=430478003","Source__c":"C1096155; MONDO:0015545","Xref__c":"430478003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1096155","Source__c":"C1096155","Xref__c":"C1096155"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015545","Source__c":"GARD:0012124","Xref__c":"MONDO:0015545"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005681","HPO_Synonym__c":"Juvenile idiopathic arthritis; Juvenile RA; Rheumatoid arthritis, juvenile","HPO_Name__c":"Juvenile rheumatoid arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the production or cellular release of tumor necrosis factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011118","HPO_Synonym__c":"Abnormality of cachectin secretion; Abnormality of cachexin secretion","HPO_Name__c":"Abnormality of tumor necrosis factor secretion","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation in the concentration of interferon gamma measured in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030356","HPO_Synonym__c":"Increased serum interferon-gamma level","HPO_Name__c":"Increased circulating interferon-gamma concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011117","HPO_Synonym__c":"Abnormal serum IL level; Abnormal serum interleukin level; Abnormality of IL secretion; Abnormality of interleukin secretion","HPO_Name__c":"Abnormal circulating interleukin concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040089","HPO_Synonym__c":"Abnormal NK cell count; Abnormal number of natural killer cells; Abnormality of natural killer cell count","HPO_Name__c":"Abnormal total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability of the liver to perform its functions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001410","HPO_Synonym__c":"Decreased liver function; Liver dysfunction","HPO_Name__c":"Decreased liver function","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A abnormal increase in the inflammatory response to injury or infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012649","HPO_Name__c":"Increased inflammatory response","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012156","HPO_Name__c":"Hemophagocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030783","HPO_Synonym__c":"Increased serum IL-6; Increased serum interleukin-6","HPO_Name__c":"Increased circulating interleukin 6 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011900","HPO_Synonym__c":"Low fibrinogen activity; Low fibrinogen level","HPO_Name__c":"Hypofibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Immunology","Pediatrics"]},"synonyms":["hemophagocytic lymphohistiocytosis with rheumatologic disease"," mas"," reactive hemophagocytic lymphohistiocytosis"]}