{"orpha":93598,"name":"Primary hyperoxaluria type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Glycolic aciduria","Peroxisomal alanine-glyoxylate aminotransferase deficiency"],"definition":null,"note":"This disease is described under Primary hyperoxaluria","url":"https://raremap.alftech.space/d/ORPHA-93598/","orphanet_url":"https://www.orpha.net/en/disease/detail/93598","names":{"fr":{"name":"Hyperoxalurie primitive type 1","synonyms":["Acidurie glycolique","Déficit en alanine-glyoxylate aminotransférase peroxysomale"]},"de":{"name":"Hyperoxalurie, primäre, Typ 1","synonyms":["Alanin-Glyoxylat-Aminotransferase-Mangel, peroxisomaler","Azidurie, glykolische"]},"es":{"name":"Hiperoxaluria primaria tipo 1","synonyms":["Aciduria glicólica","Deficiencia de alanina glioxilato aminotransferasa peroxisomal"]},"it":{"name":"Iperossaluria primitiva, tipo 1","synonyms":["Aciduria glicolica","Deficit di alanina-gliossilato aminotransferasi perossisomiale"]},"nl":{"name":"Primaire hyperoxalurie type 1","synonyms":["Deficiëntie van peroxisomaal alanineglyoxylaat-aminotransferase","Glycolacidurie"]},"pt":{"name":"Deficiência de alanina-glioxilato aminotransferase (hiperoxalúria tipo 1)"},"pl":{"name":"Pierwotna hiperoksaluria typu 1","synonyms":["Acyduria glikolowa","Niedobór peroksymalnej aminotransferazy alanino-glioksylanowej"]},"cs":{"name":"Primární hyperoxalurie, typ 1","synonyms":["Glykolická acidurie","Deficit peroxisomální alanin-glyoxylát aminotransferázy","Zvýšené vylučování glykolátu"]},"uk":{"name":"Первинна гіпероксалурія, тип 1","synonyms":["Гліколієва ацидурія","Пероксисомний дефіцит аланін-гліоксилат-амінотрансферази"]},"zh":{"name":"原发性高草酸尿症1型","synonyms":["过氧化物酶体丙氨酸-乙醛酸氨基转移酶缺乏症"]},"tr":{"name":"Primer hiperoksalüri tip 1","synonyms":["Glikolik asidüri","Peroksizomal alanin-glioksilat aminotransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"259900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"692812009"},{"source":"MONDO","code":"0009823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268164","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2835","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":309810,"name":"Disorder of peroxisomal alpha-, beta- and omega-oxidation","classifications":[150,156,233]},{"orpha":416,"name":"Primary hyperoxaluria","classifications":[150,156,188,189,233]}],"children":[],"genes":[{"symbol":"AGXT","name":"alanine--glyoxylate aminotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"341","ensembl":"ENSG00000172482","omim":"604285","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Netherlands","status":"Validated","source":"12543880[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Netherlands","status":"Validated","source":"12543880[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Switzerland","status":"Validated","source":"8808215[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Switzerland","status":"Validated","source":"8808215[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"France","status":"Validated","source":"8592622[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-11","source":"20301460[PMID]","terms":[{"hpo":"HP:0011021","label":"Abnormality of circulating enzyme level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003761","label":"Calcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003159","label":"Hyperoxaluria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null}]}}