{"orpha":976,"name":"Adenine phosphoribosyltransferase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2,8-dihydroxyadenine urolithiasis","APRT deficiency"],"definition":"A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-976/","orphanet_url":"https://www.orpha.net/en/disease/detail/976","names":{"fr":{"name":"Déficit en adénosine phosphoribosyltransférase","synonyms":["Déficit en APRT","Lithiase urinaire par la 2,8-dihydroxyadénine"],"definition":"Une néphropathie génétique rare secondaire à un trouble du métabolisme des purines caractérisé par la formation et la surexcrétion de 2,8-dihydroxyadénine (2,8-DHA) dans l'urine, causant une lithiase urinaire et une néphropathie cristalline."},"de":{"name":"Adenin-Phosphoribosyl-Transferase-Mangel","definition":"Der Adenin-Phosphoribosyl-Transferase (APRT)-Mangel ist eine seltene autosomal-rezessive Störung, die durch die Bildung und starke Ausscheidung im von 2,8-Dihydroxyadenin (2,8-DHA) im Urin gekennzeichnet ist. Die Folgen sind Urolithiasis und kristalline Nephropathie."},"es":{"name":"Deficiencia de adenina fosforribosiltransferasa","definition":"Es una nefropatía genética poco frecuente secundaria a un trastorno del metabolismo de las purinas caracterizado por la formación aumentada e hiperexcreción urinaria de 2,8-dihidroxiadenina (2,8-DHA) en la orina, causando urolitiasis y nefropatía cristalina."},"it":{"name":"Deficit di adenina fosforibosiltrasferasi","synonyms":["2,8-diidrossiadenina urolitiasi","Deficit di APRT"],"definition":"Si tratta di una nefropatia genetica rara, causata da un'anomalia del metabolismo delle purine, e caratterizzata dalla formazione e dall'ipersecrezione di 2,8-diidrossiadenina (2,8-DHA) nelle urine, che esita nell'urolitiasi e nella nefropatia da deposito di cristalli."},"nl":{"name":"Adeninefosforibosyltransferasedeficiëntie","synonyms":["2,8-dihydroxyadenine-urolithiasis","APRT-deficiëntie"],"definition":"Een zeldzame, genetische nefropathie secundair aan een stoornis van het purinemetabolisme, gekarakteriseerd door de vorming en hyperexcretie van 2,8-dihydroxyadenine (2,8-DHA) in de urine, wat urolithiasis en kristallijne nefropathie veroorzaakt."},"pt":{"name":"Deficiência de adenina fosforribosiltransferase","synonyms":["Urolitíase 2,8-diidroxi-adenina","Urolitíase 2,8-diidroxiadenina"],"definition":"Nefropatia genética rara secundária a uma perturbação do metabolismo das purinas, caracterizada pela formação e hiperexcreção de 2,8-dihidroxidenina (2,8-DHA) na urina, causando urolitíase e nefropatia cristalina."},"pl":{"name":"Niedobór fosforybozylotransferazy adeniny","synonyms":["Kamica 2,8 dihydroksyadeninowa","Kamica 2,8 dihydroksyadeninowa","Niedobór APRT","Niedobór fosforybozylotransferazy adeninowej","Kamica 2,8 dihydroksyadeninowa"]},"cs":{"name":"Deficit adeninfosforibosyltransferázy","synonyms":["2,8-dihydroxyadeninová urolitiáza","Deficit APRT"]},"uk":{"name":"Дефіцит аденінфосфорибозилтрансферази","synonyms":["2,8-дигідроксиаденін сечокамяна хвороба","Дефіцит APRT"],"definition":"A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."},"zh":{"name":"腺嘌呤磷酸核糖基转移酶缺乏症","synonyms":["2,8-二羟基腺嘌呤尿路结石症"]},"tr":{"name":"Adenin fosforibosiltransferaz eksikliği","synonyms":["APRT eksikliği","2,8-dihidroksiadenin ürolitiyazis"]}},"xrefs":[{"source":"OMIM","code":"614723","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"753682703"},{"source":"MONDO","code":"0013869","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268120","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"546","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072609","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":79191,"name":"Disorder of purine 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]}],"children":[],"genes":[{"symbol":"APRT","name":"adenine phosphoribosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22934314[PMID]_22700886[PMID]","hgnc":"626","ensembl":"ENSG00000198931","omim":"102600","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Specific population","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Japan","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.7,"area":"Iceland","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-10","source":"22934314[PMID]_30993240[PMID]_31440706[PMID]_31378568[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011848","label":"Abdominal colic","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","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:0000791","label":"Uric acid nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000019","label":"Urinary hesitancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null}]}}