{"Name":"Combined deficiency of factor V and factor VIII","DiseaseID__c":"GARD:0016639","id":16639,"encodedName":"combined-deficiency-of-factor-v-and-factor-viii","IsDeleted":false,"Disease_Name_Full__c":"Combined deficiency of factor V and factor VIII","Xref_IDs__c":"715559004; C1856883; MEDGEN:384006; MONDO:0018175; ORPHA:35909","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018175","Disease_Description__c":"A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.","GARD_Name__c":"Combined deficiency of factor V and factor VIII","GARD_Synonym__c":"combined deficiency of factor v and factor type viii; f5f8d; factor v and factor viii combined deficiency; familial multiple coagulation factor deficiency; fv and fviii combined deficiency","Curated_Disease_Description_Source__c":"MONDO:0018175","Curated_Disease_Description__c":"A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.","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:35909","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018175","ORPHANET_ID__c":"ORPHA:35909","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia combinada de los factores v y viii","Spanish_Description_Source__c":"ORPHA:35909","Spanish_Description__c":"Es un trastorno hereditario de la coagulación, poco frecuente debido a una reducción de la actividad y de los niveles de antígeno de los factores V (FV) y VIII (FVIII), caracterizado por síntomas hemorrágicos de leves a moderados.","Spanish_Disease_Name__c":"deficiencia combinada de los factores v y viii","Spanish_GARD_Synonym__c":"deficiencia combinada de fv y fviii; f5f8d","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":"A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.","Curated_Disease_Description_Source__c":"MONDO:0018175","GARD_Synonym__c":"combined deficiency of factor v and factor type viii; f5f8d; factor v and factor viii combined deficiency; familial multiple coagulation factor deficiency; fv and fviii combined deficiency","Name":"Combined deficiency of factor V and factor VIII","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"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:35909"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/35909","Source__c":"C1856883; MONDO:0018175; ORPHA:35909","Xref__c":"ORPHA:35909"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856883","Source__c":"C1856883","Xref__c":"C1856883"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715559004","Source__c":"C1856883; MONDO:0018175","Xref__c":"715559004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=384006","Source__c":"C1856883","Xref__c":"MEDGEN:384006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018175","Source__c":"GARD:0016639","Xref__c":"MONDO:0018175"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMAN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MCFD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35909","HPO_Frequency__c":"Frequent (30-79%)","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:35909","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003125","HPO_Name__c":"Reduced factor VIII activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35909","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:35909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35909","HPO_Frequency__c":"Occasional (5-29%)","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:35909","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:35909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Significant bleeding or hemorrhage without significant precipitating factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011889","HPO_Synonym__c":"Bleeding with minor or no trauma; Easy bleeding","HPO_Name__c":"Bleeding with minor or no trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35909","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:35909","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:35909","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:35909","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:35909","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:35909","HPO_Frequency__c":"Frequent (30-79%)","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:35909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor V.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003225","HPO_Synonym__c":"Reduced factor V activity","HPO_Name__c":"Reduced coagulation factor V activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35909","HPO_Frequency__c":"Frequent (30-79%)","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:35909","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:35909","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["combined deficiency of factor v and factor type viii"," f5f8d"," factor v and factor viii combined deficiency"," familial multiple coagulation factor deficiency"," fv and fviii combined deficiency"]}