{"Name":"High molecular weight kininogen deficiency","DiseaseID__c":"GARD:0002684","id":2684,"encodedName":"high-molecular-weight-kininogen-deficiency","IsDeleted":false,"Disease_Name_Full__c":"High molecular weight kininogen deficiency","Xref_IDs__c":"27312002; C0272340; C537060; C98946; DOID:0111676; MEDGEN:75780; MONDO:0009234; OMIM:228960; ORPHA:483","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009234","Disease_Description__c":"A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.","GARD_Name__c":"High molecular weight kininogen deficiency","GARD_Synonym__c":"congenital high-molecular-weight kininogen deficiency; fitzgerald factor deficiency; fitzgerald trait; fitzgerald-flaujeac-williams-reid trait; hmwk deficiency; kininogen deficiency; reduced kininogen activity; williams factor deficiency; williams-fitzgerald-flaujeac factor deficiency","Curated_Disease_Description_Source__c":"MONDO:0009234","Curated_Disease_Description__c":"A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:483","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009234","ORPHANET_ID__c":"ORPHA:483","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de quininógeno de alto peso molecular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia congénita de quininógeno de alto peso molecular","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 autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.","Curated_Disease_Description_Source__c":"MONDO:0009234","GARD_Synonym__c":"congenital high-molecular-weight kininogen deficiency; fitzgerald factor deficiency; fitzgerald trait; fitzgerald-flaujeac-williams-reid trait; hmwk deficiency; kininogen deficiency; reduced kininogen activity; williams factor deficiency; williams-fitzgerald-flaujeac factor deficiency","Name":"High molecular weight kininogen deficiency","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002684","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75780","Source__c":"C0272340","Xref__c":"MEDGEN:75780"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98946","Source__c":"C0272340; MONDO:0009234","Xref__c":"C98946"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272340","Source__c":"C0272340","Xref__c":"C0272340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537060","Source__c":"MONDO:0009234","Xref__c":"C537060"},{"URL__c":"https://www.omim.org/entry/228960","Source__c":"C0272340; MONDO:0009234; ORPHA:483","Xref__c":"OMIM:228960"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111676","Source__c":"MONDO:0009234","Xref__c":"DOID:0111676"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=27312002","Source__c":"C0272340; MONDO:0009234","Xref__c":"27312002"},{"URL__c":"https://www.orpha.net/en/disease/detail/483","Source__c":"C0272340; MONDO:0009234; ORPHA:483","Xref__c":"ORPHA:483"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005527","Source__c":"C0272340","Xref__c":"HP:0005527"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009234","Source__c":"GARD:0002684","Xref__c":"MONDO:0009234"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KNG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:228960","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":"OMIM:228960","Feature__r":{"HPO_Description__c":"Amount or activity of kininogen is below the lower limit of normal. Kininogen functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005527","HPO_Synonym__c":"Fitzgerald factor deficiency; Kininogen deficiency; Williams factor deficiency; Williams-Fitzgerald-Flaujeac factor deficiency","HPO_Name__c":"Reduced kininogen activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["congenital high-molecular-weight kininogen deficiency"," fitzgerald factor deficiency"," fitzgerald trait"," fitzgerald-flaujeac-williams-reid trait"," hmwk deficiency"," kininogen deficiency"," reduced kininogen activity"," williams factor deficiency"," williams-fitzgerald-flaujeac factor deficiency"]}