{"Name":"Hepatic veno-occlusive disease","DiseaseID__c":"GARD:0013004","id":13004,"encodedName":"hepatic-veno-occlusive-disease","IsDeleted":false,"Disease_Name_Full__c":"Hepatic veno-occlusive disease","Xref_IDs__c":"65617004; C0019156; C26793; D006504; DOID:0080177; K76.5; MEDGEN:5514; MONDO:0019514; ORPHA:890","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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019514","Disease_Description__c":"A rare vascular liver disease characterized by toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins and sinusoids. Clinical manifestations include painful hepatomegaly, jaundice, and fluid retention that manifests by weight gain, edemas, and ascites.","GARD_Name__c":"Hepatic veno-occlusive disease","GARD_Synonym__c":"budd chiari syndrome; hepatic sinusoidal obstruction syndrome; hepatic vod; liver veno-occlusive disease; sinusoidal obstruction syndrome; terminal hepatic lobular vascular occlusion; veno-occlusive disease of the liver","Curated_Disease_Description_Source__c":"MEDGEN:C0019156","Curated_Disease_Description__c":"A disorder characterized by damage of the hepatic sinusoidal endothelial cells of the hepatic venules that leads to venular occlusion and hepatocellular necrosis. It is usually the side effect of high dose chemotherapy in preparation for stem cell transplantation. Less frequently it may be caused by ingestion of plant alkaloids. The clinical signs and symptoms include hyperbilirubinemia, hepatomegaly, and fluid retention.","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:890","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019514","ORPHANET_ID__c":"ORPHA:890","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad veno-oclusiva hepática","Spanish_Description_Source__c":"ORPHA:890","Spanish_Description__c":"Es una enfermedad vascular del hígado poco frecuente caracterizada por una lesión tóxica de los capilares sinusoidales hepáticos que conduce a la obstrucción de las venas hepáticas pequeñas y de los sinusoides. Las manifestaciones clínicas incluyen hepatomegalia dolorosa, ictericia y retención de líquidos que se manifiesta como aumento de peso, edemas y ascitis.","Spanish_Disease_Name__c":"enfermedad veno-oclusiva hepática","Spanish_GARD_Synonym__c":"síndrome de obstrucción sinusoidal","Category_Linearization__c":"ORPHA:57146","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 disorder characterized by damage of the hepatic sinusoidal endothelial cells of the hepatic venules that leads to venular occlusion and hepatocellular necrosis. It is usually the side effect of high dose chemotherapy in preparation for stem cell transplantation. Less frequently it may be caused by ingestion of plant alkaloids. The clinical signs and symptoms include hyperbilirubinemia, hepatomegaly, and fluid retention.","Curated_Disease_Description_Source__c":"MEDGEN:C0019156","GARD_Synonym__c":"budd chiari syndrome; hepatic sinusoidal obstruction syndrome; hepatic vod; liver veno-occlusive disease; sinusoidal obstruction syndrome; terminal hepatic lobular vascular occlusion; veno-occlusive disease of the liver","Name":"Hepatic veno-occlusive disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:890"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019156","Source__c":"C0019156","Xref__c":"C0019156"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5514","Source__c":"C0019156","Xref__c":"MEDGEN:5514"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65617004","Source__c":"C0019156; MONDO:0019514","Xref__c":"65617004"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K76.5","Source__c":"MONDO:0019514","Xref__c":"K76.5"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080177","Source__c":"MONDO:0019514","Xref__c":"DOID:0080177"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26793","Source__c":"C0019156; MONDO:0019514","Xref__c":"C26793"},{"URL__c":"https://www.orpha.net/en/disease/detail/890","Source__c":"C0019156; MONDO:0019514; ORPHA:890","Xref__c":"ORPHA:890"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006504","Source__c":"C0019156; MONDO:0019514","Xref__c":"D006504"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019514","Source__c":"GARD:0013004","Xref__c":"MONDO:0019514"},{"URL__c":"https://hpo.jax.org/browse/term/HP:6000716","Source__c":"C0019156","Xref__c":"HP:6000716"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003645","HPO_Synonym__c":"Abnormal partial thromboplastin time; Delayed thromboplastin generation; Partial thromboplastin time prolonged; Prolonged activated partial thromboplastin time; Prolonged PTT","HPO_Name__c":"Prolonged partial thromboplastin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004324","HPO_Synonym__c":"Increased body weight","HPO_Name__c":"Increased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002480","HPO_Name__c":"Hepatic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003573","HPO_Synonym__c":"High bili total; Increased bilirubin","HPO_Name__c":"Increased total bilirubin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:890","HPO_Frequency__c":"Very frequent (80-99%)","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:890","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Vascular Medicine","Pediatrics"]},"synonyms":["budd chiari syndrome"," hepatic sinusoidal obstruction syndrome"," hepatic vod"," liver veno-occlusive disease"," sinusoidal obstruction syndrome"," terminal hepatic lobular vascular occlusion"," veno-occlusive disease of the liver"]}