{"Name":"Familial dysfibrinogenemia","DiseaseID__c":"GARD:0002004","id":2004,"encodedName":"familial-dysfibrinogenemia","IsDeleted":false,"Disease_Name_Full__c":"Familial dysfibrinogenemia","Xref_IDs__c":"111589005; C0272350; C131659; MEDGEN:82901; MONDO:0014452; OMIM:616004; ORPHA:98881","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014452","Disease_Description__c":"Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.","GARD_Name__c":"Familial dysfibrinogenemia","GARD_Synonym__c":"congenital dysfibrinogenemia; dysfibrinogenemia; dysfibrinogenemia, congenital; hereditary dysfibrinogenemia; hypodysfibrinogenemia","Curated_Disease_Description_Source__c":"GARD:0002004","Curated_Disease_Description__c":"Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital) or acquired. Congenital Dysfibrinogenemia is rare. About 40% of people with this form have no symptoms. About 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders. Congenital Dysfibrinogenemias may be caused by genetic changes in the FGA, FGB or FGG genes. Inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive. Whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific genetic change(s). Acquired Dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis.","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:98881","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0014452","ORPHANET_ID__c":"ORPHA:98881","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disfibrinogenemia familiar","Spanish_Description_Source__c":"ORPHA:98881","Spanish_Description__c":"Es un trastorno de la coagulación caracterizado por una tendencia al sangrado debido a una anomalía funcional del fibrinógeno circulante.","Spanish_Disease_Name__c":"disfibrinogenemia familiar","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":"Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen. Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form. Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital) or acquired. Congenital Dysfibrinogenemia is rare. About 40% of people with this form have no symptoms. About 50% have a bleeding disorder, and the remaining 10% have either a thrombotic disorder (excessive clotting) or both bleeding and thrombotic disorders. Congenital Dysfibrinogenemias may be caused by genetic changes in the FGA, FGB or FGG genes. Inheritance is most often autosomal dominant or codominant, but can also be autosomal recessive. Whether a person has no symptoms, a bleeding tendency, or an increased risk of thrombosis depends on the effect of their specific genetic change(s). Acquired Dysfibrinogenemia is more common than the congenital form and is associated with liver disease such as cirrhosis, liver tumors, or hepatitis.","Curated_Disease_Description_Source__c":"GARD:0002004","GARD_Synonym__c":"congenital dysfibrinogenemia; dysfibrinogenemia; dysfibrinogenemia, congenital; hereditary dysfibrinogenemia; hypodysfibrinogenemia","Name":"Familial dysfibrinogenemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"},{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.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:98881"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1260903"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002004","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/616004","Source__c":"C0272350; MONDO:0014452; ORPHA:98881","Xref__c":"OMIM:616004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111589005","Source__c":"MONDO:0014452","Xref__c":"111589005"},{"URL__c":"https://www.orpha.net/en/disease/detail/98881","Source__c":"C0272350; MONDO:0014452","Xref__c":"ORPHA:98881"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131659","Source__c":"MONDO:0014452","Xref__c":"C131659"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82901","Source__c":"C0272350","Xref__c":"MEDGEN:82901"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272350","Source__c":"C0272350","Xref__c":"C0272350"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=45366001","Source__c":"C0272350","Xref__c":"45366001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014452","Source__c":"GARD:0002004","Xref__c":"MONDO:0014452"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fga","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98881","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98881","HPO_Frequency__c":"Very frequent (80-99%)","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:98881","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98881","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:98881","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital dysfibrinogenemia"," dysfibrinogenemia"," dysfibrinogenemia, congenital"," hereditary dysfibrinogenemia"," hypodysfibrinogenemia"]}