{"Name":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","DiseaseID__c":"GARD:0017857","id":17857,"encodedName":"cytosolic-phospholipase-a2-alpha-deficiency-associated-bleeding-disorder","IsDeleted":false,"Disease_Name_Full__c":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","Xref_IDs__c":"1172901009; C5567651; MEDGEN:1799074; MONDO:0018794; OMIM:618372; ORPHA:477787","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:477787","Disease_Description__c":"A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.","GARD_Name__c":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","GARD_Synonym__c":"deficiency of phospholipase a2, group iva; gastrointestinal ulceration, recurrent, with dysfunctional platelets; gurdp; pla2g4a (phospholipase a2 group iva) related platelet dysfunction; pla2g4a-related platelet dysfunction; platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency","Curated_Disease_Description_Source__c":"ORPHA:477787","Curated_Disease_Description__c":"A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:477787","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018794","ORPHANET_ID__c":"ORPHA:477787","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno de sangrado asociado a una deficiencia de fosfolipasa a2 alfa citosólica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trastorno de sangrado asociado a una deficiencia de fosfolipasa a2 alfa citosólica","Spanish_GARD_Synonym__c":"disfunción plaquetaria asociada al gen pla2g4a; disfunción plaquetaria por deficiencia de fosfolipasa-a2 alfa citosólica","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 genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition.","Curated_Disease_Description_Source__c":"ORPHA:477787","GARD_Synonym__c":"deficiency of phospholipase a2, group iva; gastrointestinal ulceration, recurrent, with dysfunctional platelets; gurdp; pla2g4a (phospholipase a2 group iva) related platelet dysfunction; pla2g4a-related platelet dysfunction; platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency","Name":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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:477787"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/477787","Source__c":"C5567651; MONDO:0018794; ORPHA:477787","Xref__c":"ORPHA:477787"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567651","Source__c":"C5567651","Xref__c":"C5567651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799074","Source__c":"C5567651","Xref__c":"MEDGEN:1799074"},{"URL__c":"https://www.omim.org/entry/618372","Source__c":"C5567651; MONDO:0018794; ORPHA:477787","Xref__c":"OMIM:618372"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172901009","Source__c":"C5567651","Xref__c":"1172901009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018794","Source__c":"GARD:0017857","Xref__c":"MONDO:0018794"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLA2G4A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"A reduction in the concentration of thromboxane B2 in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032244","HPO_Name__c":"Decreased serum thromboxane B2","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"An erosion of the mucous membrane in a portion of the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002588","HPO_Name__c":"Duodenal ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030361","HPO_Synonym__c":"Abnormality of icosanoid metabolism","HPO_Name__c":"Abnormal circulating eicosanoid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032575","HPO_Synonym__c":"Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration","HPO_Name__c":"Decreased circulating 12-HETE","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004791","HPO_Synonym__c":"Esophagus ulcer; Oesophagus ulceration","HPO_Name__c":"Esophageal ulceration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003540","HPO_Synonym__c":"Defective platelet aggregation; Deficient platelet aggregation; Platelet aggregation defect","HPO_Name__c":"Impaired platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618372","Feature__r":{"HPO_Description__c":"An ulcer, that is, an erosion of an area of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002592","HPO_Synonym__c":"Stomach ulcer","HPO_Name__c":"Gastric ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Hematology"],"Specialist":["Genetics","Gastroenterology","Hematology","Pediatrics"]},"synonyms":["deficiency of phospholipase a2, group iva"," gastrointestinal ulceration, recurrent, with dysfunctional platelets"," gurdp"," pla2g4a (phospholipase a2 group iva) related platelet dysfunction"," pla2g4a-related platelet dysfunction"," platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency"]}