{"orpha":416,"name":"Primary hyperoxaluria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-416/","orphanet_url":"https://www.orpha.net/en/disease/detail/416","names":{"fr":{"name":"Hyperoxalurie primitive","definition":"Trouble du métabolisme du glyoxylate caractérisé par un excès d'oxalate entraînant des calculs rénaux, une néphrocalcinose et finalement une insuffisance rénale et une oxalose systémique. Il existe trois types d'hyperoxalurie primitive (HP), les types 1 à 3, tous causés par des déficits d'enzymes spécifiques au foie."},"de":{"name":"Hyperoxalurie, primäre","definition":"Die Primäre Hyperoxalurie ist eine seltene Störung des Glykoxylat-Stoffwechsels. Sie ist gekennzeichnet durch einen Oxalatüberschuss. Die daraus resultierenden Symptome reichen von gelegentlichen Nierensteinen über rezidivierende Nephrolithiasis und Nephrokalzinose bis zu terminaler Nierenerkrankung und systemischer Oxalose. Die Erkrankung wird in drei unterschiedliche Typen aufgeteilt, die alle durch leberspezifische Enzymdefekte verursacht werden: Primäre Hyperoxalurie Typ 1, Typ 2 und Typ 3."},"es":{"name":"Hiperoxaluria primaria","definition":"Es un trastorno del metabolismo del glioxilato caracterizado por un exceso de oxalato que resulta en la formación de cálculos renales, nefrolitiasis y nefrocalcinosis recurrente, evolucionando a enfermedad renal en fase terminal y a oxalosis sistémica. Se reconocen tres tipos de HP, los tipos 1-3, todos ellos causados por defectos enzimáticos hepáticos específicos."},"it":{"name":"Iperossaluria primitiva","definition":"L'iperossaluria primitiva (PH) è un difetto del metabolismo del gliossilato, caratterizzato da un eccesso di ossalato che causa calcoli renali, nefrocalcinosi, insufficienza renale e ossalosi sistemica. Esistono tre tipi di PH (PH 1, 2 e 3), tutti causati da difetti di enzimi specifici per il fegato."},"nl":{"name":"Primaire hyperoxalurie","definition":"Een aandoening van glyoxylaatmetabolisme, gekarakteriseerd door een aan oxalaat, wat leidt tot nierstenen, nefrocalcinose en uiteindelijk tot nierfalen en systemische oxalose. Er bestaan 3 types van PH, zijnde types 1-3, die allen veroorzaakt worden door defecten van leverenzymen."},"pt":{"name":"Hiperoxalúria primária","definition":"Uma doença do metabolismo do glioxilato caracterizada por um excesso de oxalato que resulta em cálculos renais, nefrocalcinose e, em última instância, insuficiência renal e oxalose sistémica. Existem 3 tipos de hiperoxalúria primária (HP), tipos 1 a 3, todos causados por defeitos enzimáticos específicos do fígado."},"pl":{"name":"Pierwotna hiperoksaluria"},"cs":{"name":"Primární hyperoxalurie"},"uk":{"name":"Первинна гіпероксалурія","definition":"A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects."},"zh":{"name":"原发性高草酸尿症"},"tr":{"name":"Primer hiperoksalüri"}},"xrefs":[{"source":"OMIM","code":"259900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"260000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613616","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0002474","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020703","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":308998,"name":"Disorder of glyoxylate metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[{"orpha":93598,"name":"Primary hyperoxaluria type 1","type":"Clinical subtype"},{"orpha":93599,"name":"Primary hyperoxaluria type 2","type":"Clinical subtype"},{"orpha":93600,"name":"Primary hyperoxaluria type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93598,"name":"Primary hyperoxaluria type 1"}},{"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"],"via":{"orpha":93599,"name":"Primary hyperoxaluria type 2"}},{"symbol":"HOGA1","name":"4-hydroxy-2-oxoglutarate aldolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25155","ensembl":"ENSG00000241935","omim":"613597","loci":["10q24.2"],"via":{"orpha":93600,"name":"Primary hyperoxaluria type 3"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Germany","status":"Validated","source":"15961947[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15961947[PMID]"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"19225556[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"28402768[PMID]_23944302[PMID]_23167815[PMID]_5635456[PMID]_2297338[PMID]_2925788[PMID]_9243228[PMID]_26340091[PMID]_20797690[PMID]_24140676[PMID]","terms":[{"hpo":"HP:0008672","label":"Calcium oxalate nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003159","label":"Hyperoxaluria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006479","label":"Abnormality of the dental pulp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012072","label":"Aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025324","label":"Arterial occlusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031981","label":"Elevated urine glycolate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004417","label":"Intermittent claudication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011072","label":"Rootless teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025520","label":"Calcinosis cutis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very rare (<4-1%)","criteria":null}]}}