{"Name":"Bleeding diathesis due to thromboxane synthesis deficiency","DiseaseID__c":"GARD:0017132","id":17132,"encodedName":"bleeding-diathesis-due-to-thromboxane-synthesis-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Bleeding diathesis due to thromboxane synthesis deficiency","Xref_IDs__c":"783194008; C5190857; MEDGEN:1678745; MONDO:0800446; OMIM:614009; ORPHA:220443","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0800446","Disease_Description__c":"A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).","GARD_Name__c":"Bleeding diathesis due to thromboxane synthesis deficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:220443","Curated_Disease_Description__c":"Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:220443","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800446","ORPHANET_ID__c":"ORPHA:220443","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diátesis hemorrágica por deficiencia de síntesis de tromboxano","Spanish_Description_Source__c":"ORPHA:220443","Spanish_Description__c":"Da lugar a una trombocitopenia genética constitucional aislada, poco frecuente, caracterizada por agregación plaquetaria alterada producida por un defecto en la síntesis o señalización del tromboxano, que se manifiesta con hemorragia mucocutánea, gastrointestinal o quirúrgica de leve a moderada (p. ej., hematomas frecuentes, sangrado excesivo después de una extracción dental).","Spanish_Disease_Name__c":"diátesis hemorrágica por deficiencia de síntesis de tromboxano","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":"Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).","Curated_Disease_Description_Source__c":"ORPHA:220443","Name":"Bleeding diathesis due to thromboxane synthesis deficiency","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1678745","Source__c":"C5190857","Xref__c":"MEDGEN:1678745"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190857","Source__c":"C5190857","Xref__c":"C5190857"},{"URL__c":"https://www.orpha.net/en/disease/detail/220443","Source__c":"MONDO:0800446","Xref__c":"ORPHA:220443"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783194008","Source__c":"C5190857","Xref__c":"783194008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800446","Source__c":"GARD:0017132","Xref__c":"MONDO:0800446"},{"URL__c":"https://www.omim.org/entry/614009","Source__c":"ORPHA:220443","Xref__c":"OMIM:614009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBXA2R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614009","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:614009","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011870","HPO_Name__c":"Impaired arachidonic acid-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614009","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011894","HPO_Name__c":"Impaired thromboxane A2 agonist-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614009","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614009","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":[""]}