{"Name":"Myeloperoxidase deficiency","DiseaseID__c":"GARD:0003868","id":3868,"encodedName":"myeloperoxidase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Myeloperoxidase deficiency","Xref_IDs__c":"234433009; C0398595; C562864; MEDGEN:96015; MONDO:0009694; OMIM:254600; ORPHA:2587","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2587","Disease_Description__c":"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.","GARD_Name__c":"Myeloperoxidase deficiency","GARD_Synonym__c":"mpo - myeloperoxidase deficiency; mpo deficiency; mpod; myeloperoxidase deficiency syndrome","Curated_Disease_Description_Source__c":"ORPHA:2587","Curated_Disease_Description__c":"A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2587","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009694","ORPHANET_ID__c":"ORPHA:2587","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de mieloperoxidasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de mieloperoxidasa","Spanish_GARD_Synonym__c":"deficiencia de mpo","Category_Linearization__c":"ORPHA:98004","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 primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.","Curated_Disease_Description_Source__c":"ORPHA:2587","GARD_Synonym__c":"mpo - myeloperoxidase deficiency; mpo deficiency; mpod; myeloperoxidase deficiency syndrome","Name":"Myeloperoxidase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2587"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398595"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003868","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/254600","Source__c":"C0398595; MONDO:0009694; ORPHA:2587","Xref__c":"OMIM:254600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234433009","Source__c":"C0398595; MONDO:0009694","Xref__c":"234433009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398595","Source__c":"C0398595","Xref__c":"C0398595"},{"URL__c":"https://www.orpha.net/en/disease/detail/2587","Source__c":"C0398595; MONDO:0009694; ORPHA:2587","Xref__c":"ORPHA:2587"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96015","Source__c":"C0398595","Xref__c":"MEDGEN:96015"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562864","Source__c":"MONDO:0009694","Xref__c":"C562864"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=129644003","Source__c":"C0398595","Xref__c":"129644003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009694","Source__c":"GARD:0003868","Xref__c":"MONDO:0009694"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MPO","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:254600","Feature__r":{"HPO_Description__c":"An abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002715","HPO_Synonym__c":"Abnormality of the immune system; Immunological abnormality","HPO_Name__c":"Abnormality of the immune system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:254600","Feature__r":{"HPO_Description__c":"An abnormality of the hematopoietic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001871","HPO_Synonym__c":"Abnormality of blood and blood-forming tissues; Abnormality of the hematopoietic system; Hematological abnormality","HPO_Name__c":"Abnormality of blood and blood-forming tissues","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:254600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000513","HPO_Name__c":"Diminished neutrophil myeloperoxidase activity","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:254600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:254600","Feature__r":{"HPO_Description__c":"Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000375","HPO_Name__c":"Reduced neutrophil myeloperoxidase activity","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["mpo - myeloperoxidase deficiency"," mpo deficiency"," mpod"," myeloperoxidase deficiency syndrome"]}