{"Name":"Congenital afibrinogenemia","DiseaseID__c":"GARD:0005761","id":5761,"encodedName":"congenital-afibrinogenemia","IsDeleted":false,"Disease_Name_Full__c":"Congenital afibrinogenemia","Xref_IDs__c":"154818001; C2584774; C98130; D000347; DOID:2236; MEDGEN:749036; MONDO:0008737; OMIM:202400; ORPHA:98880","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008737","Disease_Description__c":"Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.","GARD_Name__c":"Congenital afibrinogenemia","GARD_Synonym__c":"congenital hypofibrinogenemia; familial afibrinogenemia; fibrinogen deficiency","Curated_Disease_Description_Source__c":"GARD:0005761","Curated_Disease_Description__c":"Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98880","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008737","ORPHANET_ID__c":"ORPHA:98880","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Afibrinogenemia familiar","Spanish_Description_Source__c":"ORPHA:98880","Spanish_Description__c":"Es un trastorno de la coagulación caracterizado por síntomas de sangrado debido a la ausencia total de fibrinógeno circulante.","Spanish_Disease_Name__c":"afibrinogenemia 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":"Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.","Curated_Disease_Description_Source__c":"GARD:0005761","GARD_Synonym__c":"congenital hypofibrinogenemia; familial afibrinogenemia; fibrinogen deficiency","Name":"Congenital afibrinogenemia","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":"Infancy","Provided_By__c":"ORPHA:98880"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98880"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005761","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2236","Source__c":"MONDO:0008737","Xref__c":"DOID:2236"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2584774","Source__c":"C2584774","Xref__c":"C2584774"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98130","Source__c":"MONDO:0008737","Xref__c":"C98130"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=154818001","Source__c":"C2584774; MONDO:0008737","Xref__c":"154818001"},{"URL__c":"https://www.orpha.net/en/disease/detail/98880","Source__c":"C2584774; MONDO:0008737; ORPHA:98880","Xref__c":"ORPHA:98880"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000347","Source__c":"MONDO:0008737","Xref__c":"D000347"},{"URL__c":"https://www.omim.org/entry/202400","Source__c":"C2584774; MONDO:0008737; ORPHA:98880","Xref__c":"OMIM:202400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=749036","Source__c":"C2584774","Xref__c":"MEDGEN:749036"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008737","Source__c":"GARD:0005761","Xref__c":"MONDO:0008737"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=439145006","Source__c":"C2584774","Xref__c":"439145006"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia","Source__c":"GARD:0005761","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fga","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgg","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 recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98880","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged/excessive menses and bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0400008","HPO_Name__c":"Menometrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98880","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:98880","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:98880","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98880","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 hypofibrinogenemia"," familial afibrinogenemia"," fibrinogen deficiency"]}