{"Name":"Eosinophil peroxidase deficiency","DiseaseID__c":"GARD:0012361","id":12361,"encodedName":"eosinophil-peroxidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Eosinophil peroxidase deficiency","Xref_IDs__c":"711160007; C1850000; C564893; MEDGEN:342386; MONDO:0043364; OMIM:261500","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0043364","Disease_Description__c":"A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.","GARD_Name__c":"Eosinophil peroxidase deficiency","GARD_Synonym__c":"eosinophil peroxidase deficiency, partial; epxd; peroxidase and phospholipid deficiency in eosinophils; presentey anomaly","Curated_Disease_Description_Source__c":"MEDGEN:C1850000","Curated_Disease_Description__c":"Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response. Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0043364","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Eosinophil peroxidase deficiency is a condition that affects certain white blood cells called eosinophils but causes no health problems in affected individuals. Eosinophils aid in the body's immune response. During a normal immune response, these cells are turned on (activated), and they travel to the area of injury or inflammation. The cells then release proteins and other compounds that have a toxic effect on severely damaged cells or invading organisms. One of these proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, eosinophils have little or no eosinophil peroxidase. A lack of this protein does not seem to affect the eosinophils' ability to carry out an immune response. Because eosinophil peroxidase deficiency does not cause any health problems, this condition is often diagnosed when blood tests are done for other reasons or when a family member has been diagnosed with the condition.","Curated_Disease_Description_Source__c":"MEDGEN:C1850000","GARD_Synonym__c":"eosinophil peroxidase deficiency, partial; epxd; peroxidase and phospholipid deficiency in eosinophils; presentey anomaly","Name":"Eosinophil peroxidase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Partnership For Eosinophilic Disorders","Website__c":"https://apfed.org/"},{"Account_Name__c":"International Eosinophil Society","Website__c":"http://www.eosinophil-society.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1850000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342386","Source__c":"C1850000","Xref__c":"MEDGEN:342386"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564893","Source__c":"MONDO:0043364","Xref__c":"C564893"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711160007","Source__c":"C1850000; MONDO:0043364","Xref__c":"711160007"},{"URL__c":"https://www.omim.org/entry/261500","Source__c":"C1850000; MONDO:0043364","Xref__c":"OMIM:261500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850000","Source__c":"C1850000","Xref__c":"C1850000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0043364","Source__c":"GARD:0012361","Xref__c":"MONDO:0043364"},{"URL__c":"https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency","Source__c":"GARD:0012361","Xref__c":"https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/epx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:261500","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034253","HPO_Name__c":"Eosinophil nuclear hypersegmentation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["eosinophil peroxidase deficiency, partial"," epxd"," peroxidase and phospholipid deficiency in eosinophils"," presentey anomaly"]}