{"Name":"Factor XII deficiency disease","DiseaseID__c":"GARD:0006558","id":6558,"encodedName":"factor-xii-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Factor XII deficiency disease","Xref_IDs__c":"46981006; C0015526; C131740; D005175; DOID:2231; MEDGEN:8772; MONDO:0009315; OMIM:234000; ORPHA:330","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009315","Disease_Description__c":"A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.","GARD_Name__c":"Factor XII deficiency disease","GARD_Synonym__c":"congenital factor xii deficiency; congenital hageman factor deficiency; deficiency, hageman; f12 deficiency; factor xii deficiency; haf deficiency; hageman factor deficiency; reduced factor xii activity","Curated_Disease_Description_Source__c":"GARD:0006558","Curated_Disease_Description__c":"Congenital factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. While a lack of factor XII does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. The condition is usually discovered when prolonged clotting is noticed in the process of running other laboratory tests. Congenital factor XII deficiency is caused by genetic changes in the F12 gene. It is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009315","ORPHANET_ID__c":"ORPHA:330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de factor xii","Spanish_Description_Source__c":"ORPHA:330","Spanish_Description__c":"Es una disfunción sistémica poco frecuente de la vía hemostática, autosómica recesiva, debida a un defecto en el factor de coagulación XII (FXII o factor de Hageman). Puede permanecer asintomática o estar caracterizada por un tiempo de tromboplastina parcial activada prolongado y un mayor riesgo de tromboembolismo. La deficiencia de FXII está fuertemente asociada a abortos primarios recurrentes.","Spanish_Disease_Name__c":"deficiencia congénita de factor xii","Spanish_GARD_Synonym__c":"deficiencia congénita de factor hageman","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 factor XII deficiency is an inherited disorder that affects a protein (factor XII) involved in blood clotting. While a lack of factor XII does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. The condition is usually discovered when prolonged clotting is noticed in the process of running other laboratory tests. Congenital factor XII deficiency is caused by genetic changes in the F12 gene. It is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0006558","GARD_Synonym__c":"congenital factor xii deficiency; congenital hageman factor deficiency; deficiency, hageman; f12 deficiency; factor xii deficiency; haf deficiency; hageman factor deficiency; reduced factor xii activity","Name":"Factor XII deficiency disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"},{"Account_Name__c":"World Federation of Hemophilia","Website__c":"https://wfh.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":"All ages","Provided_By__c":"ORPHA:330"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0015526"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006558","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005175","Source__c":"C0015526; MONDO:0009315","Xref__c":"D005175"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0015526","Source__c":"C0015526","Xref__c":"C0015526"},{"URL__c":"https://www.omim.org/entry/234000","Source__c":"C0015526; MONDO:0009315; ORPHA:330","Xref__c":"OMIM:234000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8772","Source__c":"C0015526","Xref__c":"MEDGEN:8772"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=46981006","Source__c":"C0015526; MONDO:0009315","Xref__c":"46981006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131740","Source__c":"C0015526; MONDO:0009315","Xref__c":"C131740"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2231","Source__c":"MONDO:0009315","Xref__c":"DOID:2231"},{"URL__c":"https://www.orpha.net/en/disease/detail/330","Source__c":"C0015526; MONDO:0009315; ORPHA:330","Xref__c":"ORPHA:330"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004841","Source__c":"C0015526","Xref__c":"HP:0004841"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009315","Source__c":"GARD:0006558","Xref__c":"MONDO:0009315"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001026","HPO_Synonym__c":"Penetrating foot ulcers","HPO_Name__c":"Penetrating foot ulcers","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004841","HPO_Synonym__c":"Factor XII deficiency; Hageman factor deficiency","HPO_Name__c":"Reduced factor XII activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007985","HPO_Synonym__c":"Blocked retinal arteriole; Blocked retinal artery","HPO_Name__c":"Retinal arteriolar occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012636","HPO_Synonym__c":"Retinal vein occlusion","HPO_Name__c":"Retinal venous occlusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital factor xii deficiency"," congenital hageman factor deficiency"," deficiency, hageman"," f12 deficiency"," factor xii deficiency"," haf deficiency"," hageman factor deficiency"," reduced factor xii activity"]}