{"orpha":93599,"name":"Primary hyperoxaluria type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["D-glycerate dehydrogenase deficiency","L-glyceric aciduria"],"definition":null,"note":"This disease is described under Primary hyperoxaluria","url":"https://raremap.alftech.space/d/ORPHA-93599/","orphanet_url":"https://www.orpha.net/en/disease/detail/93599","names":{"fr":{"name":"Hyperoxalurie primitive type 2","synonyms":["Déficit en D-glycérate déshydrogénase","Acidurie L-glycérique"]},"de":{"name":"Hyperoxalurie, primäre, Typ 2","synonyms":["D-Glycerat-Dehydrogenase-Mangel"]},"es":{"name":"Hiperoxaluria primaria tipo 2","synonyms":["Aciduria L-glicérica","Deficiencia de D-glicerato deshidrogenasa"]},"it":{"name":"Iperossaluria primitiva, tipo 2","synonyms":["Deficit di D-glicerato deidrogenasi"]},"nl":{"name":"Primaire hyperoxalurie type 2","synonyms":["Deficiëntie van D-glyceraat-dehydrogenase","L-glycerinezuuracidurie"]},"pt":{"name":"Hiperoxalúria primária tipo 2","synonyms":["Aciduria L-glicérica","Deficiência de D-glicerato desidrogenase"]},"pl":{"name":"Pierwotna hiperoksaluria typu 2","synonyms":["Acyduria L-glicerynowa","Niedobór dehydrogenazy D-glicerynowej"]},"cs":{"name":"Primární hyperoxalurie, typ 2","synonyms":["Deficit D-glycerát dehydrogenázy","L-glycerová acidurie"]},"uk":{"name":"Первинна гіпероксалурія, тип 2","synonyms":["Дефіцит D-гліцератдегідрогенази","L-гліцеринова ацидурія"]},"zh":{"name":"原发性高草酸尿症2型","synonyms":["D-甘油酸脱氢酶缺乏症"]},"tr":{"name":"Primer hiperoksalüri tip 2","synonyms":["L-gliserik asidüri","D-gliserat dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"260000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"347920969"},{"source":"MONDO","code":"0009824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536415","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268165","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2836","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":416,"name":"Primary hyperoxaluria","classifications":[150,156,188,189,233]}],"children":[],"genes":[{"symbol":"GRHPR","name":"glyoxylate and hydroxypyruvate reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4570","ensembl":"ENSG00000137106","omim":"604296","loci":["9p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23167815[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-24","source":"9243228[PMID]","terms":[{"hpo":"HP:0003159","label":"Hyperoxaluria","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:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}