{"Name":"Idiopathic disseminated cytomegalovirus infection","DiseaseID__c":"GARD:0018811","id":18811,"encodedName":"idiopathic-disseminated-cytomegalovirus-infection","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic disseminated cytomegalovirus infection","Xref_IDs__c":"C5680152; MEDGEN:1826159; MONDO:0018108; ORPHA:35062","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:35062","Disease_Description__c":"A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.","GARD_Name__c":"Idiopathic disseminated cytomegalovirus infection","GARD_Synonym__c":"idiopathic disseminated cmv infection; severe disseminated cmv infection in immunocompetent patients; severe disseminated cytomegalovirus infection in immunocompetent patients","Curated_Disease_Description_Source__c":"ORPHA:35062","Curated_Disease_Description__c":"A rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:35062","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018108","ORPHANET_ID__c":"ORPHA:35062","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infección diseminada por citomegalovirus grave en pacientes inmunocompetentes","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"infección diseminada por citomegalovirus grave en pacientes inmunocompetentes","Spanish_GARD_Synonym__c":"infección diseminada por cmv grave en pacientes inmunocompetentes","Category_Linearization__c":"ORPHA:68416","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 rare viral disease characterized by fulminant cytomegalovirus infection with multiple organ involvement including the brain, lung, liver, and/or heart, among others, and marked constitutional symptoms in immunocompetent patients. The condition is associated with a high case fatality rate.","Curated_Disease_Description_Source__c":"ORPHA:35062","GARD_Synonym__c":"idiopathic disseminated cmv infection; severe disseminated cmv infection in immunocompetent patients; severe disseminated cytomegalovirus infection in immunocompetent patients","Name":"Idiopathic disseminated cytomegalovirus infection","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Rare Viral Disease","Tag_Category__c":"Cause","curated_tag_name":"Viral Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:35062"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/35062","Source__c":"C5680152; MONDO:0018108; ORPHA:35062","Xref__c":"ORPHA:35062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1826159","Source__c":"C5680152","Xref__c":"MEDGEN:1826159"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680152","Source__c":"C5680152","Xref__c":"C5680152"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018108","Source__c":"GARD:0018811","Xref__c":"MONDO:0018108"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006515","HPO_Name__c":"Interstitial pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden sensation of feeling cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025143","HPO_Synonym__c":"Chills","HPO_Name__c":"Chills","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A breach of the capsule of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012223","HPO_Synonym__c":"Ruptured spleen; Splenic rupture","HPO_Name__c":"Splenic rupture","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430087","HPO_Synonym__c":"CMV antibody titer high in blood","HPO_Name__c":"Anti-cytomegalovirus antibody positivity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of cytomegalovirus infection characterized by infection and inflammation of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033431","HPO_Synonym__c":"CMV colitis","HPO_Name__c":"Cytomegalovirus colitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012486","HPO_Synonym__c":"Inflammation of spinal cord","HPO_Name__c":"Myelitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the retina of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032118","HPO_Name__c":"Retinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the lining of the upper small intestine (duodenum).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033117","HPO_Synonym__c":"Duodenal inflammation","HPO_Name__c":"Duodenitis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","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:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","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:35062","HPO_Frequency__c":"Frequent (30-79%)","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:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033993","HPO_Name__c":"Viral encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35062","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare Viral Disease"]},"synonyms":["idiopathic disseminated cmv infection"," severe disseminated cmv infection in immunocompetent patients"," severe disseminated cytomegalovirus infection in immunocompetent patients"]}