{"Name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","DiseaseID__c":"GARD:0002943","id":2943,"encodedName":"hypoxanthine-guanine-phosphoribosyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","Xref_IDs__c":"124275001; C5848153; MEDGEN:1852368; MONDO:0016088; ORPHA:206428","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016088","Disease_Description__c":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.","GARD_Name__c":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","GARD_Synonym__c":"deficiency of guanine phosphoribosyltransferase; deficiency of hypoxanthine phosphoribosyltransferase; deficiency of hypoxanthine-guanine phosphoribosyltransferase; deficiency of imp pyrophosphorylase; hprt deficiency; hprt1 deficiency; hypoxanthine-guanine phosphoribosyltransferase 1 deficiency","Curated_Disease_Description_Source__c":"MONDO:0016088","Curated_Disease_Description__c":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.","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:206428","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016088","ORPHANET_ID__c":"ORPHA:206428","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de hipoxantina-guanina fosforibosiltransferasa","Spanish_Description_Source__c":"ORPHA:206428","Spanish_Description__c":"El déficit de hipoxantina-guanina-fosforribosil-transferasa (HPRT) es un trastorno hereditario del metabolismo de las purinas asociado a una sobreproducción de ácido úrico (AU) y con un espectro variable de manifestaciones neurológicas dependiendo del grado de deficiencia de la enzima.","Spanish_Disease_Name__c":"deficiencia de hipoxantina-guanina fosforibosiltransferasa","Spanish_GARD_Synonym__c":"deficiencia de hipoxantina-guanina fosforibosiltransferasa 1; deficiencia de hprt; deficiencia de hprt1","Category_Linearization__c":"ORPHA:68367","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":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.","Curated_Disease_Description_Source__c":"MONDO:0016088","GARD_Synonym__c":"deficiency of guanine phosphoribosyltransferase; deficiency of hypoxanthine phosphoribosyltransferase; deficiency of hypoxanthine-guanine phosphoribosyltransferase; deficiency of imp pyrophosphorylase; hprt deficiency; hprt1 deficiency; hypoxanthine-guanine phosphoribosyltransferase 1 deficiency","Name":"Hypoxanthine-guanine phosphoribosyltransferase 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:206428"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/206428","Source__c":"C5848153; MONDO:0016088; ORPHA:206428","Xref__c":"ORPHA:206428"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124275001","Source__c":"C5848153; MONDO:0016088","Xref__c":"124275001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5848153","Source__c":"C5848153","Xref__c":"C5848153"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1852368","Source__c":"C5848153","Xref__c":"MEDGEN:1852368"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016088","Source__c":"GARD:0002943","Xref__c":"MONDO:0016088"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1149","Source__c":"Gene Review","Xref__c":"NBK1149"}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Nephrology","Hematology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Nephrology"]},"synonyms":["deficiency of guanine phosphoribosyltransferase"," deficiency of hypoxanthine phosphoribosyltransferase"," deficiency of hypoxanthine-guanine phosphoribosyltransferase"," deficiency of imp pyrophosphorylase"," hprt deficiency"," hprt1 deficiency"," hypoxanthine-guanine phosphoribosyltransferase 1 deficiency"]}