{"orpha":214,"name":"Cystinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cystinuria-lysinuria syndrome"],"definition":"A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-214/","orphanet_url":"https://www.orpha.net/en/disease/detail/214","names":{"fr":{"name":"Cystinurie","synonyms":["Syndrome de cystinurie-lysinurie"],"definition":"Maladie rare concernant le transport tubulaire rénal des aminoacides. Elle conduit à la formation de calculs urinaires de cystine."},"de":{"name":"Zystinurie","synonyms":["Cystinurie-Lysinurie"],"definition":"Die Zystinurie ist eine Störung des Aminosäuretransportes in den Nierentubuli, die gekennzeichnet ist durch rezidivierende Bildung von Zystin-Nierensteinen."},"es":{"name":"Cistinuria","synonyms":["Cistinuria-lisinuria"],"definition":"Es un trastorno poco frecuente del transporte de aminoácidos tubulares renales caracterizado por la formación recurrente de cálculos renales de cistina."},"it":{"name":"Cistinuria","definition":"Si tratta di un disturbo raro del trasporto degli aminoacidi nei tubuli renali, caratterizzato dalla formazione ricorrente di calcoli renali di cistina."},"nl":{"name":"Cystinurie","synonyms":["Cystinurie - lysinurie-syndroom"],"definition":"Een zeldzame aandoening van aminozuurtransport in niertubuli, gekarakteriseerd door recidiverende vorming van cystinestenen in nier."},"pt":{"name":"Cistinúria","synonyms":["Cistinúria-lisinúria"],"definition":"A cistinúria é um distúrbio do transporte de aminoácidos nos túbulos renais caracterizado pela formação recorrente de cálculos de cistina nos rins."},"pl":{"name":"Cystynuria","synonyms":["Cystynuria - lizynuria"],"definition":"Rzadkie zaburzenie transportu aminokwasów w kanalikach nerkowych, charakteryzujące się nawracającym tworzeniem się kamieni cystynowych w nerkach."},"cs":{"name":"Cystinurie","synonyms":["Cystin-lysinurie"]},"uk":{"name":"Цистинурія","synonyms":["Синдром цистинурії-лізинурії"],"definition":"A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones."},"zh":{"name":"胱氨酸尿症","synonyms":["Cystinuria-lysinuria综合征"]},"tr":{"name":"Sistinüri","synonyms":["Sistinüri-lizinüri sendromu"]}},"xrefs":[{"source":"OMIM","code":"220100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C60.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1237620397"},{"source":"MONDO","code":"0009067","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010691","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6237","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011778","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[{"orpha":93612,"name":"Cystinuria type A","type":"Etiological subtype"},{"orpha":93613,"name":"Cystinuria type B","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SLC3A1","name":"solute carrier family 3 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21255007[PMID]","hgnc":"11025","ensembl":"ENSG00000138079","omim":"104614","loci":["2p21"],"via":{"orpha":93612,"name":"Cystinuria type A"}},{"symbol":"SLC7A9","name":"solute carrier family 7 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21255007[PMID]","hgnc":"11067","ensembl":"ENSG00000021488","omim":"604144","loci":["19q13.11"],"via":{"orpha":93613,"name":"Cystinuria type B"}}],"inheritance":["Autosomal recessive","Semi-dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":50.0,"area":"United Kingdom","status":"Validated","source":"19096983[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Canada","status":"Validated","source":"19096983[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Japan","status":"Validated","source":"19096983[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Specific population","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Worldwide","status":"Validated","source":"22480232[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Sweden","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Australia","status":"Validated","source":"19096983[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"United States","status":"Validated","source":"19096983[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-13","source":"24246330[PMID]_33910689[PMID]_25964309[PMID]","terms":[{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003131","label":"Cystinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012088","label":"Abnormal urinary odor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033067","label":"Cystine crystalluria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012405","label":"Hypocitraturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000916","label":"Echogenic fetal colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Occasional (29-5%)","criteria":null}]}}