{"Name":"Congenital factor VII deficiency","DiseaseID__c":"GARD:0002238","id":2238,"encodedName":"congenital-factor-vii-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital factor VII deficiency","Xref_IDs__c":"C0272320; C131631; C98939; DOID:2215; MEDGEN:473015; MONDO:0009211; ORPHA:327","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:0009211","Disease_Description__c":"A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.","GARD_Name__c":"Congenital factor VII deficiency","GARD_Synonym__c":"congenital proconvertin deficiency; hereditary factor vii deficiency disease; hereditary factor vii deficiency syndrome; hereditary hypoproconvertinemia","Curated_Disease_Description_Source__c":"GARD:0002238","Curated_Disease_Description__c":"Congenital factor VII deficiency is a rare bleeding disorder. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleeding after injury or surgery; and heavy or prolonged menstrual bleeding in women. Some people with congenital factor VII deficiency may have bleeding in the joints or blood in the urine. In very severe cases, congenital factor VII deficiency can cause bleeding inside the skull or digestive tract. Congenital factor VII deficiency is caused by genetic changes in the F7 gene and inheritance is autosomal recessive.","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:327","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009211","ORPHANET_ID__c":"ORPHA:327","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del factor vii","Spanish_Description_Source__c":"ORPHA:327","Spanish_Description__c":"Es un trastorno congénito de origen genético y poco frecuente, por deficiencia del factor de coagulación VII dependiente de la vitamina K, caracterizado por niveles reducidos o ausentes del factor de coagulación VII (FVII) que resulta en diátesis hemorrágica de gravedad variable.","Spanish_Disease_Name__c":"deficiencia congénita del factor vii","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 factor VII deficiency is a rare bleeding disorder. While severe cases may become apparent in infancy, very mild cases may never cause any bleeding problems. Signs and symptoms may include nosebleeds; easy bruising; bleeding gums; excessive or prolonged bleeding after injury or surgery; and heavy or prolonged menstrual bleeding in women. Some people with congenital factor VII deficiency may have bleeding in the joints or blood in the urine. In very severe cases, congenital factor VII deficiency can cause bleeding inside the skull or digestive tract. Congenital factor VII deficiency is caused by genetic changes in the F7 gene and inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0002238","GARD_Synonym__c":"congenital proconvertin deficiency; hereditary factor vii deficiency disease; hereditary factor vii deficiency syndrome; hereditary hypoproconvertinemia","Name":"Congenital factor VII deficiency","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":"Hemophilia Federation of America","Website__c":"https://www.hemophiliafed.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:327"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0015503"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002238","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2215","Source__c":"MONDO:0009211","Xref__c":"DOID:2215"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131631","Source__c":"MONDO:0009211","Xref__c":"C131631"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473015","Source__c":"C0272320","Xref__c":"MEDGEN:473015"},{"URL__c":"https://www.orpha.net/en/disease/detail/327","Source__c":"C0272320; MONDO:0009211","Xref__c":"ORPHA:327"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272320","Source__c":"C0272320","Xref__c":"C0272320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40855001","Source__c":"C0272320","Xref__c":"40855001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98939","Source__c":"C0272320","Xref__c":"C98939"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009211","Source__c":"GARD:0002238","Xref__c":"MONDO:0009211"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:327","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:327","HPO_Frequency__c":"Frequent (30-79%)","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:327","HPO_Frequency__c":"Frequent (30-79%)","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:327","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:327","HPO_Frequency__c":"Very frequent (80-99%)","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:327","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:327","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:327","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:327","HPO_Frequency__c":"Frequent (30-79%)","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:327","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:327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010881","HPO_Synonym__c":"Umbilical cord issue","HPO_Name__c":"Abnormality of the umbilical cord","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:327","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more cysts of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000138","HPO_Synonym__c":"Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality","HPO_Name__c":"Ovarian cyst","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital proconvertin deficiency"," hereditary factor vii deficiency disease"," hereditary factor vii deficiency syndrome"," hereditary hypoproconvertinemia"]}