{"Name":"Prekallikrein deficiency","DiseaseID__c":"GARD:0025905","id":25905,"encodedName":"prekallikrein-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Prekallikrein deficiency","Xref_IDs__c":"48976006; C0272339; C99022; MEDGEN:75779; MONDO:0044744","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0044744","Disease_Description__c":"A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.","GARD_Name__c":"Prekallikrein deficiency","GARD_Synonym__c":"fletcher factor deficiency; fletcher trait; pkk deficiency","Curated_Disease_Description_Source__c":"MONDO:0044744","Curated_Disease_Description__c":"Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons. A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0044744","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons. A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency.","Curated_Disease_Description_Source__c":"MONDO:0044744","GARD_Synonym__c":"fletcher factor deficiency; fletcher trait; pkk deficiency","Name":"Prekallikrein deficiency","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75779","Source__c":"C0272339","Xref__c":"MEDGEN:75779"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99022","Source__c":"C0272339; MONDO:0044744","Xref__c":"C99022"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48976006","Source__c":"C0272339; MONDO:0044744","Xref__c":"48976006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272339","Source__c":"C0272339","Xref__c":"C0272339"},{"URL__c":"https://medlineplus.gov/genetics/condition/prekallikrein-deficiency","Source__c":"GARD:0025905","Xref__c":"https://medlineplus.gov/genetics/condition/prekallikrein-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044744","Source__c":"GARD:0025905","Xref__c":"MONDO:0044744"}],"tags":{},"synonyms":["fletcher factor deficiency"," fletcher trait"," pkk deficiency"]}