{"Name":"Congenital factor V deficiency","DiseaseID__c":"GARD:0002237","id":2237,"encodedName":"congenital-factor-v-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital factor V deficiency","Xref_IDs__c":"88776002; C0015499; C98938; DOID:2216; MEDGEN:4633; MONDO:0009210; OMIM:227400; ORPHA:326","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009210","Disease_Description__c":"Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.","GARD_Name__c":"Congenital factor V deficiency","GARD_Synonym__c":"ac globulin deficiency; deficiency, labile; hereditary factor v deficiency; hereditary factor v deficiency disease; hereditary hypoproaccelerinaemia; hereditary hypoproaccelerinemia; labile factor deficiency; owren disease; owren parahemophilia; owren's disease; parahemophilia; proaccelerin deficiency","Curated_Disease_Description_Source__c":"GARD:0002237","Curated_Disease_Description__c":"Congenital factor V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly. This disorder is caused by genetic changes in the F5 gene, which leads to a deficiency of a protein called coagulation factor V. The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma. This condition is inherited in an autosomal recessive manner. This condition should not be confused with Factor V Leiden thrombophilia, a genetic risk factor for blood clots.","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:326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009210","ORPHANET_ID__c":"ORPHA:326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del factor v","Spanish_Description_Source__c":"ORPHA:326","Spanish_Description__c":"La deficiencia congénita de factor V es un trastorno hereditario de la coagulación, debido a una reducción del nivel de factor V (FV) plasmático y caracterizado por hemorragias de gravedad variable.","Spanish_Disease_Name__c":"deficiencia congénita del factor v","Spanish_GARD_Synonym__c":"deficiencia de proacelerina; enfermedad de owren; parahemofilia","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 V deficiency is an inherited bleeding disorder that prevents blood clots from forming properly. This disorder is caused by genetic changes in the F5 gene, which leads to a deficiency of a protein called coagulation factor V. The reduced amount of factor V may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma. This condition is inherited in an autosomal recessive manner. This condition should not be confused with Factor V Leiden thrombophilia, a genetic risk factor for blood clots.","Curated_Disease_Description_Source__c":"GARD:0002237","GARD_Synonym__c":"ac globulin deficiency; deficiency, labile; hereditary factor v deficiency; hereditary factor v deficiency disease; hereditary hypoproaccelerinaemia; hereditary hypoproaccelerinemia; labile factor deficiency; owren disease; owren parahemophilia; owren's disease; parahemophilia; proaccelerin deficiency","Name":"Congenital factor V deficiency","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":"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:326"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0015499"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002237","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/227400","Source__c":"C0015499; MONDO:0009210; ORPHA:326","Xref__c":"OMIM:227400"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2216","Source__c":"MONDO:0009210","Xref__c":"DOID:2216"},{"URL__c":"https://www.orpha.net/en/disease/detail/326","Source__c":"C0015499; MONDO:0009210; ORPHA:326","Xref__c":"ORPHA:326"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98938","Source__c":"C0015499; MONDO:0009210","Xref__c":"C98938"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=88776002","Source__c":"C0015499; MONDO:0009210","Xref__c":"88776002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4633","Source__c":"C0015499","Xref__c":"MEDGEN:4633"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0015499","Source__c":"C0015499","Xref__c":"C0015499"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005166","Source__c":"C0015499","Xref__c":"D005166"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009210","Source__c":"GARD:0002237","Xref__c":"MONDO:0009210"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spontaneous development of hematomas (hematoma) or bruises without significant trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007420","HPO_Name__c":"Spontaneous hematomas","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant maternal hemorrhage/blood loss following deilvery of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011891","HPO_Synonym__c":"Bleeding post-delivery; Post-partum hemorrhage","HPO_Name__c":"Post-partum hemorrhage","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged or protracted bleeding following an invasive procedure or intervention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011890","HPO_Synonym__c":"Prolonged bleeding following procedure","HPO_Name__c":"Prolonged bleeding following procedure","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","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:326","HPO_Frequency__c":"Frequent (30-79%)","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:326","HPO_Frequency__c":"Occasional (5-29%)","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:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","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:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding that persists for a longer than usual time following circumcision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030137","HPO_Synonym__c":"Prolonged bleeding following circumcision","HPO_Name__c":"Prolonged bleeding following circumcision","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent or excessive bleeding from the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030140","HPO_Synonym__c":"Bleeding from mouth; Oral cavity bleeding; Oral cavity hemorrhage","HPO_Name__c":"Oral cavity bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001934","HPO_Synonym__c":"Excessive bleeding after minor trauma; Frequent bleeding with trauma; Prolonged bleeding after minor trauma","HPO_Name__c":"Persistent bleeding after trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding that persists longer than the normal time following a surgical procedure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004846","HPO_Synonym__c":"Excessive bleeding during surgery; Prolonged bleeding after surgery; Protracted bleeding after surgery","HPO_Name__c":"Prolonged bleeding after surgery","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:326","HPO_Frequency__c":"Occasional (5-29%)","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:326","HPO_Frequency__c":"Occasional (5-29%)","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:326","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["ac globulin deficiency"," deficiency, labile"," hereditary factor v deficiency"," hereditary factor v deficiency disease"," hereditary hypoproaccelerinaemia"," hereditary hypoproaccelerinemia"," labile factor deficiency"," owren disease"," owren parahemophilia"," owren's disease"," parahemophilia"," proaccelerin deficiency"]}