{"Name":"Hereditary factor VIII deficiency disease","DiseaseID__c":"GARD:0006591","id":6591,"encodedName":"hereditary-factor-viii-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor VIII deficiency disease","Xref_IDs__c":"234440005; 28293008; C0019069; C27146; D006467; D66; DOID:12134; MEDGEN:5501; MONDO:0010602; OMIM:306700; ORPHA:98878","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010602","Disease_Description__c":"A rare genetic hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.","GARD_Name__c":"Hereditary factor VIII deficiency disease","GARD_Synonym__c":"ahg deficiency disease; autosomal hemophilia a; classical hemophilia; congenital f8 deficiency; congenital factor viii deficiency; congenital factor viii deficiency disease; congenital factor viii disorder; congenital fviii deficiency; factor 8 deficiency, congenital; factor viii deficiency; haemophilia a, x-linked recessive; haemophilia type a; hem a; hema; hemophilia a; hemophilia a, congenital; hemophilia a, x-linked recessive; hemophilia type a; hemophilia, classic; hereditary factor viii deficiency; sex-linked factor viii deficiency; subhemophilia","Curated_Disease_Description_Source__c":"GARD:0006591","Curated_Disease_Description__c":"Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. People with Hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Bleeding into the joints, muscles, brain, or organs can cause pain and other serious complications. In milder forms, there is no spontaneous bleeding, and the disorder might only be diagnosed after a surgery or serious injury. Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots. The disorder is inherited in an X-linked recessive manner and is caused by changes in the F8 gene. The diagnosis of Hemophilia A is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. Hemophilia A mainly affects males.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:98878","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010602","ORPHANET_ID__c":"ORPHA:98878","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemofilia a","Spanish_Description_Source__c":"ORPHA:98878","Spanish_Description__c":"Es una enfermedad hematológica poco frecuente de origen genético y caracterizada por hemorragias espontáneas o prolongadas debido a un déficit del factor VIII.","Spanish_Disease_Name__c":"hemofilia a","Spanish_GARD_Synonym__c":"deficiencia congénita de f8; deficiencia congénita de factor viii; deficiencia congénita de fviii","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":"Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. People with Hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Bleeding into the joints, muscles, brain, or organs can cause pain and other serious complications. In milder forms, there is no spontaneous bleeding, and the disorder might only be diagnosed after a surgery or serious injury. Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots. The disorder is inherited in an X-linked recessive manner and is caused by changes in the F8 gene. The diagnosis of Hemophilia A is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. Hemophilia A mainly affects males.","Curated_Disease_Description_Source__c":"GARD:0006591","GARD_Synonym__c":"ahg deficiency disease; autosomal hemophilia a; classical hemophilia; congenital f8 deficiency; congenital factor viii deficiency; congenital factor viii deficiency disease; congenital factor viii disorder; congenital fviii deficiency; factor 8 deficiency, congenital; factor viii deficiency; haemophilia a, x-linked recessive; haemophilia type a; hem a; hema; hemophilia a; hemophilia a, congenital; hemophilia a, x-linked recessive; hemophilia type a; hemophilia, classic; hereditary factor viii deficiency; sex-linked factor viii deficiency; subhemophilia","Name":"Hereditary factor VIII deficiency disease","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Hemophilia Federation of America","Website__c":"https://www.hemophiliafed.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":"Childhood","Provided_By__c":"ORPHA:98878"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98878"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98878"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0019069"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1404","Source__c":"Gene Review","Xref__c":"NBK1404"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5501","Source__c":"C0019069","Xref__c":"MEDGEN:5501"},{"URL__c":"https://www.omim.org/entry/306700","Source__c":"C0019069; MONDO:0010602; ORPHA:98878","Xref__c":"OMIM:306700"},{"URL__c":"https://www.orpha.net/en/disease/detail/98878","Source__c":"C0019069; MONDO:0010602; ORPHA:98878","Xref__c":"ORPHA:98878"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234440005","Source__c":"MONDO:0010602","Xref__c":"234440005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019069","Source__c":"C0019069","Xref__c":"C0019069"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12134","Source__c":"MONDO:0010602","Xref__c":"DOID:12134"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27146","Source__c":"C0019069; MONDO:0010602","Xref__c":"C27146"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006467","Source__c":"C0019069; MONDO:0010602","Xref__c":"D006467"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D66","Source__c":"MONDO:0010602","Xref__c":"D66"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28293008","Source__c":"C0019069","Xref__c":"28293008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010602","Source__c":"GARD:0006591","Xref__c":"MONDO:0010602"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98878","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98878","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:98878","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:98878","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A breach of the capsule of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012223","HPO_Synonym__c":"Ruptured spleen; Splenic rupture","HPO_Name__c":"Splenic rupture","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98878","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:98878","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98878","HPO_Frequency__c":"Frequent (30-79%)","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:98878","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding into the ventricles of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030746","HPO_Name__c":"Intraventricular hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98878","HPO_Frequency__c":"Very frequent (80-99%)","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:98878","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"}},{"Provided_By__c":"ORPHA:98878","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:98878","HPO_Frequency__c":"Frequent (30-79%)","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:98878","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:98878","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","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":["ahg deficiency disease"," autosomal hemophilia a"," classical hemophilia"," congenital f8 deficiency"," congenital factor viii deficiency"," congenital factor viii deficiency disease"," congenital factor viii disorder"," congenital fviii deficiency"," factor 8 deficiency, congenital"," factor viii deficiency"," haemophilia a, x-linked recessive"," haemophilia type a"," hem a"," hema"," hemophilia a"," hemophilia a, congenital"," hemophilia a, x-linked recessive"," hemophilia type a"," hemophilia, classic"," hereditary factor viii deficiency"," sex-linked factor viii deficiency"," subhemophilia"]}