{"Name":"Upshaw-Schulman syndrome","DiseaseID__c":"GARD:0009430","id":9430,"encodedName":"upshaw-schulman-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Upshaw-Schulman syndrome","Xref_IDs__c":"373420004; C1268935; C131657; MEDGEN:224783; MONDO:0010122; OMIM:274150; ORPHA:93583","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0010122","Disease_Description__c":"A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.","GARD_Name__c":"Upshaw-Schulman syndrome","GARD_Synonym__c":"congenital adamts-13 deficiency; congenital adamts13 deficiency; congenital thrombotic thrombocytopenic purpura; congenital ttp; familial thrombotic thrombocytopenia purpura; familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome; familial ttp; familial ttp/hus; hereditary thrombotic thrombocytopenic purpura; thrombotic thrombocytopenic purpura, hereditary; ttp","Curated_Disease_Description_Source__c":"GARD:0009430","Curated_Disease_Description__c":"Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood. Symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Congenital TTP is caused by changes in the ADAMTS13 gene and inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:93583","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010122","ORPHANET_ID__c":"ORPHA:93583","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Púrpura trombocitopénica trombótica congénita","Spanish_Description_Source__c":"ORPHA:93583","Spanish_Description__c":"Es una forma hereditaria de púrpura trombocitopénica trombótica (PTT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (AMAH) y fallo orgánico único o múltiple de gravedad variable.","Spanish_Disease_Name__c":"púrpura trombocitopénica trombótica congénita","Spanish_GARD_Synonym__c":"deficiencia congénita de adamts-13; ptt congénita; ptt familiar; síndrome de upshaw-schulman","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":"Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood. Symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Congenital TTP is caused by changes in the ADAMTS13 gene and inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0009430","GARD_Synonym__c":"congenital adamts-13 deficiency; congenital adamts13 deficiency; congenital thrombotic thrombocytopenic purpura; congenital ttp; familial thrombotic thrombocytopenia purpura; familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome; familial ttp; familial ttp/hus; hereditary thrombotic thrombocytopenic purpura; thrombotic thrombocytopenic purpura, hereditary; ttp","Name":"Upshaw-Schulman syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United States Thrombotic Microangiopathy Alliance (USTMA)","Website__c":"https://www.ustma.org/"},{"Account_Name__c":"Answering T.T.P.","Website__c":"https://www.answeringttp.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93583"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93583"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:93583"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93583"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009430","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131657","Source__c":"C1268935; MONDO:0010122","Xref__c":"C131657"},{"URL__c":"https://www.orpha.net/en/disease/detail/93583","Source__c":"C1268935; MONDO:0010122; ORPHA:93583","Xref__c":"ORPHA:93583"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=224783","Source__c":"C1268935","Xref__c":"MEDGEN:224783"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373420004","Source__c":"C1268935; MONDO:0010122","Xref__c":"373420004"},{"URL__c":"https://www.omim.org/entry/274150","Source__c":"C1268935; MONDO:0010122; ORPHA:93583","Xref__c":"OMIM:274150"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1268935","Source__c":"C1268935","Xref__c":"C1268935"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010122","Source__c":"GARD:0009430","Xref__c":"MONDO:0010122"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAMTS13","GHR_URL__c":"https://medlineplus.gov/genetics/gene/adamts13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"An abnormal functionality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012211","HPO_Synonym__c":"Abnormal kidney function; Abnormal renal function; Abnormality of renal physiology; Kidney function issue; Renal functional abnormality","HPO_Name__c":"Abnormal renal physiology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:274150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","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":"OMIM:274150","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","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":"OMIM:274150","Feature__r":{"HPO_Description__c":"A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005575","HPO_Synonym__c":"Hemolytic uremic syndrome","HPO_Name__c":"Hemolytic-uremic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:274150","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"Microscopic hematuria detected by dipstick or microscopic examination of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002907","HPO_Synonym__c":"Microhematuria; Occult hematuria; Small amount of blood in urine","HPO_Name__c":"Microscopic hematuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:274150","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:274150","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":"OMIM:274150","Feature__r":{"HPO_Description__c":"An increased amount of nitrogen in the form of urea in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003138","HPO_Synonym__c":"Increased blood urea nitrogen; Increased BUN","HPO_Name__c":"Increased blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Description__c":"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001981","HPO_Synonym__c":"Schistocytes","HPO_Name__c":"Schistocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001937","HPO_Name__c":"Microangiopathic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274150","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Hematology"],"Specialist":["Genetics","Nephrology","Hematology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["congenital adamts-13 deficiency"," congenital adamts13 deficiency"," congenital thrombotic thrombocytopenic purpura"," congenital ttp"," familial thrombotic thrombocytopenia purpura"," familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome"," familial ttp"," familial ttp/hus"," hereditary thrombotic thrombocytopenic purpura"," thrombotic thrombocytopenic purpura, hereditary"," ttp"]}