{"Name":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","DiseaseID__c":"GARD:0020148","id":20148,"encodedName":"hemorrhagic-disease-due-to-alpha-1-antitrypsin-pittsburgh-mutation","IsDeleted":false,"Disease_Name_Full__c":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","Xref_IDs__c":"782909004; C5190706; MEDGEN:1675899; MONDO:0015801; ORPHA:178396","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:178396","Disease_Description__c":"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.","GARD_Name__c":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","GARD_Synonym__c":"'antithrombin' pittsburgh; pi pittsburgh","Curated_Disease_Description_Source__c":"ORPHA:178396","Curated_Disease_Description__c":"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:178396","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015801","ORPHANET_ID__c":"ORPHA:178396","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad hemorrágica por una mutación pittsburgh en alfa 1-antitripsina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad hemorrágica por una mutación pittsburgh en alfa 1-antitripsina","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":"A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.","Curated_Disease_Description_Source__c":"ORPHA:178396","GARD_Synonym__c":"'antithrombin' pittsburgh; pi pittsburgh","Name":"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alpha-1 Foundation","Website__c":"https://www.alpha1.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":"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":"Adolescent","Provided_By__c":"ORPHA:178396"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1519","Source__c":"Gene Review","Xref__c":"NBK1519"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190706","Source__c":"C5190706","Xref__c":"C5190706"},{"URL__c":"https://www.orpha.net/en/disease/detail/178396","Source__c":"C5190706; MONDO:0015801; ORPHA:178396","Xref__c":"ORPHA:178396"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1675899","Source__c":"C5190706","Xref__c":"MEDGEN:1675899"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782909004","Source__c":"C5190706","Xref__c":"782909004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015801","Source__c":"GARD:0020148","Xref__c":"MONDO:0015801"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/serpina1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["'antithrombin' pittsburgh"," pi pittsburgh"]}