{"Name":"Hereditary factor X deficiency disease","DiseaseID__c":"GARD:0006404","id":6404,"encodedName":"hereditary-factor-x-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor X deficiency disease","Xref_IDs__c":"37350004; C0272327; C98940; DOID:2222; MEDGEN:543976; MONDO:0009212; ORPHA:328","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:0009212","Disease_Description__c":"A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.","GARD_Name__c":"Hereditary factor X deficiency disease","GARD_Synonym__c":"congenital factor x deficiency; congenital stuart factor deficiency; disease, stuart-prower; hereditary factor x deficiency; hereditary stuart factor deficiency disease; hereditary stuart-prower deficiency disease","Curated_Disease_Description_Source__c":"GARD:0006404","Curated_Disease_Description__c":"Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Common features of Factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with Factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non-inherited) Factor X deficiency, which is the most common form of the disorder, generally occurs in people with no family history of the disorder. Acquired Factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer. The inherited form of Factor X deficiency (also called congenital Factor X deficiency) is caused by changes in the F10 gene and is inherited in an autosomal recessive manner. Factor X deficiency can be diagnosed based on the symptoms and through laboratory tests to measure clotting time.","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:328","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009212","ORPHANET_ID__c":"ORPHA:328","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del factor x","Spanish_Description_Source__c":"ORPHA:328","Spanish_Description__c":"Es un trastorno de la coagulación hereditario poco frecuente, con una reducción de la actividad y/o del antígeno factor X (FX) y caracterizado por manifestaciones hemorrágicas de leves a graves.","Spanish_Disease_Name__c":"deficiencia congénita del factor x","Spanish_GARD_Synonym__c":"deficiencia congénita del factor stuart","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":"Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Common features of Factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with Factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non-inherited) Factor X deficiency, which is the most common form of the disorder, generally occurs in people with no family history of the disorder. Acquired Factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer. The inherited form of Factor X deficiency (also called congenital Factor X deficiency) is caused by changes in the F10 gene and is inherited in an autosomal recessive manner. Factor X deficiency can be diagnosed based on the symptoms and through laboratory tests to measure clotting time.","Curated_Disease_Description_Source__c":"GARD:0006404","GARD_Synonym__c":"congenital factor x deficiency; congenital stuart factor deficiency; disease, stuart-prower; hereditary factor x deficiency; hereditary stuart factor deficiency disease; hereditary stuart-prower deficiency disease","Name":"Hereditary factor X deficiency disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"All ages","Provided_By__c":"ORPHA:328"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006404","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=543976","Source__c":"C0272327","Xref__c":"MEDGEN:543976"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=37350004","Source__c":"C0272327; MONDO:0009212","Xref__c":"37350004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272327","Source__c":"C0272327","Xref__c":"C0272327"},{"URL__c":"https://www.orpha.net/en/disease/detail/328","Source__c":"C0272327; MONDO:0009212","Xref__c":"ORPHA:328"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2222","Source__c":"MONDO:0009212","Xref__c":"DOID:2222"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98940","Source__c":"C0272327; MONDO:0009212","Xref__c":"C98940"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009212","Source__c":"GARD:0006404","Xref__c":"MONDO:0009212"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:328","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:328","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011854","HPO_Name__c":"Hemoperitoneum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","HPO_Frequency__c":"Always (100%)","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:328","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:328","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:328","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:328","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:328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blood clot formed within muscle tissue following leakage of blood into the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012233","HPO_Synonym__c":"IM hematoma; Intramuscular haematoma","HPO_Name__c":"Intramuscular hematoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011884","HPO_Name__c":"Abnormal umbilical stump bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","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:328","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:328","HPO_Frequency__c":"Very frequent (80-99%)","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:328","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:328","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025328","HPO_Synonym__c":"Prepartum hemorrhage","HPO_Name__c":"Antepartum hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","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:328","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:328","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the arachnoid mater and the pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002138","HPO_Synonym__c":"Subarachnoid hemorrhage","HPO_Name__c":"Subarachnoid hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008321","HPO_Synonym__c":"Decreased factor x activity","HPO_Name__c":"Reduced factor X activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:328","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital factor x deficiency"," congenital stuart factor deficiency"," disease, stuart-prower"," hereditary factor x deficiency"," hereditary stuart factor deficiency disease"," hereditary stuart-prower deficiency disease"]}