{"Name":"Acquired von willebrand syndrome","DiseaseID__c":"GARD:0005573","id":5573,"encodedName":"acquired-von-willebrand-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Acquired von willebrand syndrome","Xref_IDs__c":"234451005; C0272362; DOID:0111146; MEDGEN:543999; MONDO:0020460; ORPHA:99147","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0020460","Disease_Description__c":"A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.","GARD_Name__c":"Acquired von willebrand syndrome","GARD_Synonym__c":"acquired von willebrand disease; acquired von willebrand disease (hereditary or acquired); acquired von willebrand's disease; avws","Curated_Disease_Description_Source__c":"GARD:0005573","Curated_Disease_Description__c":"Acquired Von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF genetic change. This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid antibody syndrome), heart conditions such as aortic valvular stenosis, increased blood platelet count such as essential thrombocythemia, and certain drugs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99147","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020460","ORPHANET_ID__c":"ORPHA:99147","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de von willebrand adquirido","Spanish_Description_Source__c":"ORPHA:99147","Spanish_Description__c":"Es un síndrome hemorrágico poco frecuente caracterizado por las mismas anomalías biológicas vistas en la enfermedad de Von Willebrand hereditaria, pero desarrolladas en asociación con otra patología subyacente, generalmente en pacientes de edad avanzada, sin antecedentes personales o familiares de anomalías hemorrágicas.","Spanish_Disease_Name__c":"síndrome de von willebrand adquirido","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Acquired Von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF genetic change. This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid antibody syndrome), heart conditions such as aortic valvular stenosis, increased blood platelet count such as essential thrombocythemia, and certain drugs.","Curated_Disease_Description_Source__c":"GARD:0005573","GARD_Synonym__c":"acquired von willebrand disease; acquired von willebrand disease (hereditary or acquired); acquired von willebrand's disease; avws","Name":"Acquired von willebrand syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Hemophilia Society","Website__c":"https://www.hemophilia.ca"},{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"},{"Account_Name__c":"Hemophilia Federation of America","Website__c":"https://www.hemophiliafed.org/"},{"Account_Name__c":"The Haemophilia Society","Website__c":"https://haemophilia.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99147"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234451005","Source__c":"C0272362; MONDO:0020460","Xref__c":"234451005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272362","Source__c":"C0272362","Xref__c":"C0272362"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111146","Source__c":"MONDO:0020460","Xref__c":"DOID:0111146"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543999","Source__c":"C0272362","Xref__c":"MEDGEN:543999"},{"URL__c":"https://www.orpha.net/en/disease/detail/99147","Source__c":"C0272362; MONDO:0020460; ORPHA:99147","Xref__c":"ORPHA:99147"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020460","Source__c":"GARD:0005573","Xref__c":"MONDO:0020460"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005505","HPO_Name__c":"Refractory anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030129","HPO_Name__c":"Impaired ristocetin cofactor assay activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008330","HPO_Synonym__c":"Decreased von willebrand factor activity","HPO_Name__c":"Reduced von Willebrand factor activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001897","HPO_Name__c":"Normocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysplasia affecting the vasculature of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000471","HPO_Synonym__c":"GI angiodysplasia","HPO_Name__c":"Gastrointestinal angiodysplasia","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004377","HPO_Name__c":"Hematological neoplasm","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025406","HPO_Synonym__c":"Lack of energy and strength; Weakness","HPO_Name__c":"Asthenia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001931","HPO_Synonym__c":"Hypochromic anemia","HPO_Name__c":"Hypochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002249","HPO_Name__c":"Melena","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003125","HPO_Name__c":"Reduced factor VIII activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001934","HPO_Synonym__c":"Excessive bleeding after minor trauma; Frequent bleeding with trauma; Prolonged bleeding after minor trauma","HPO_Name__c":"Persistent bleeding after trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology"]},"synonyms":["acquired von willebrand disease"," acquired von willebrand disease (hereditary or acquired)"," acquired von willebrand's disease"," avws"]}