{"Name":"Hereditary factor XI deficiency disease","DiseaseID__c":"GARD:0009670","id":9670,"encodedName":"hereditary-factor-xi-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor XI deficiency disease","Xref_IDs__c":"49762007; C0015523; C84705; D68.1; DOID:2229; MEDGEN:8770; MONDO:0012897; OMIM:612416; ORPHA:329","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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:0012897","Disease_Description__c":"A rare inherited bleeding disorder characterized by reduced levels and/or activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.","GARD_Name__c":"Hereditary factor XI deficiency disease","GARD_Synonym__c":"congenital factor xi deficiency; congenital factor xi deficiency disease; factor xi deficiency, autosomal dominant; factor xi deficiency, autosomal recessive; haemophilia c; hemophilia c; hereditary factor xi deficiency; plasma thromboplastin antecedent deficiency; pta deficiency; rosenthal factor deficiency; rosenthal syndrome; rosenthal's disease; thromboplastin antecedent deficiency","Curated_Disease_Description_Source__c":"GARD:0009670","Curated_Disease_Description__c":"Congenital factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with congenital factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Highly variable bleeding patterns occur between different people who have congenital factor XI deficiency and within families. Bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of congenital factor XI deficiency are inherited and caused by changes in the F11 gene. In most cases the condition is inherited in an autosomal recessive manner. However, it may follow an autosomal dominant pattern in some families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:329","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012897","ORPHANET_ID__c":"ORPHA:329","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del factor xi","Spanish_Description_Source__c":"ORPHA:329","Spanish_Description__c":"Es un trastorno hereditario de la coagulación poco frecuente, caracterizado por una reducción del nivel y/o de la actividad del factor XI (FXI), que resulta en síntomas hemorrágicos moderados, por lo general, después de un traumatismo o una cirugía.","Spanish_Disease_Name__c":"deficiencia congénita del factor xi","Spanish_GARD_Synonym__c":"deficiencia del antecedente de la tromboplastina plasmática (pta); deficiencia del factor rosenthal; hemofilia c; síndrome de rosenthal","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 XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with congenital factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Highly variable bleeding patterns occur between different people who have congenital factor XI deficiency and within families. Bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of congenital factor XI deficiency are inherited and caused by changes in the F11 gene. In most cases the condition is inherited in an autosomal recessive manner. However, it may follow an autosomal dominant pattern in some families.","Curated_Disease_Description_Source__c":"GARD:0009670","GARD_Synonym__c":"congenital factor xi deficiency; congenital factor xi deficiency disease; factor xi deficiency, autosomal dominant; factor xi deficiency, autosomal recessive; haemophilia c; hemophilia c; hereditary factor xi deficiency; plasma thromboplastin antecedent deficiency; pta deficiency; rosenthal factor deficiency; rosenthal syndrome; rosenthal's disease; thromboplastin antecedent deficiency","Name":"Hereditary factor XI deficiency disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Hemophilia Society","Website__c":"https://www.hemophilia.ca"},{"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/"},{"Account_Name__c":"Hemophilia Federation of America","Website__c":"https://www.hemophiliafed.org/"},{"Account_Name__c":"The Haemophilia Society","Website__c":"https://haemophilia.org.uk/"}],"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:329"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0015523"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009670","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49762007","Source__c":"C0015523; MONDO:0012897","Xref__c":"49762007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8770","Source__c":"C0015523","Xref__c":"MEDGEN:8770"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0015523","Source__c":"C0015523","Xref__c":"C0015523"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84705","Source__c":"C0015523; MONDO:0012897","Xref__c":"C84705"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2229","Source__c":"MONDO:0012897","Xref__c":"DOID:2229"},{"URL__c":"https://www.orpha.net/en/disease/detail/329","Source__c":"C0015523; MONDO:0012897; ORPHA:329","Xref__c":"ORPHA:329"},{"URL__c":"https://www.omim.org/entry/612416","Source__c":"C0015523; MONDO:0012897; ORPHA:329","Xref__c":"OMIM:612416"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005173","Source__c":"C0015523","Xref__c":"D005173"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012897","Source__c":"GARD:0009670","Xref__c":"MONDO:0012897"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D68.1","Source__c":"MONDO:0012897","Xref__c":"D68.1"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged bleeding post dental extraction sufficient to require medical intervention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006298","HPO_Synonym__c":"Prolonged bleeding after dental extraction","HPO_Name__c":"Prolonged bleeding after dental extraction","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","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"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010989","HPO_Name__c":"Abnormality of the intrinsic pathway","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:329","HPO_Frequency__c":"Very frequent (80-99%)","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:329","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001929","HPO_Synonym__c":"Low factor XI activity","HPO_Name__c":"Reduced factor XI activity","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 xi deficiency"," congenital factor xi deficiency disease"," factor xi deficiency, autosomal dominant"," factor xi deficiency, autosomal recessive"," haemophilia c"," hemophilia c"," hereditary factor xi deficiency"," plasma thromboplastin antecedent deficiency"," pta deficiency"," rosenthal factor deficiency"," rosenthal syndrome"," rosenthal's disease"," thromboplastin antecedent deficiency"]}