{"orpha":3337,"name":"Primary Fanconi renotubular syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DeToni-Debré-Fanconi syndrome","Primary Fanconi renal syndrome"],"definition":"A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3337/","orphanet_url":"https://www.orpha.net/en/disease/detail/3337","names":{"fr":{"name":"Syndrome de Fanconi primitif rénotubulaire","synonyms":["Syndrome de De Toni-Debré-Fanconi","Syndrome de Fanconi primaire rénal","Syndrome de Fanconi primaire rénotubulaire","Syndrome de Fanconi primitif rénal"],"definition":"Maladie rénale génétique rare touchant l'ensemble des fonctions tubulaires proximales de transport. Elle est caractérisée par une augmentation anormale de l'élimination urinaire de solutés de faible poids moléculaire (aminoacides, glucose, protéines de bas poids moléculaire, acides organiques, carnitine, calcium, phosphate, potassium, bicarbonate) et d'eau. Elle peut menacer le pronostic vital."},"de":{"name":"Renotubuläres Fanconi-Syndrom, primäres","synonyms":["Renales Fanconi-Syndrom, primäres","Toni-Debré-Fanconi-Syndrom"],"definition":"Eine generalisierte, genetisch bedingte Störung des proximalen Tubulustransports, die durch eine übermäßige Urinausscheidung mit Verlust von niedermolekularen gelösten Stoffen (Aminosäuren, Glukose, niedermolekulare Proteine, organische Säuren, Carnitin, Kalzium, Phosphat, Kalium, Bikarbonat) und Wasser gekennzeichnet ist und lebensbedrohlich sein kann."},"es":{"name":"Síndrome de Fanconi primario renotubular","synonyms":["Síndrome de DeToni-Debré-Fanconi","Síndrome de Fanconi primario renal"],"definition":"Es un trastorno generalizado, poco frecuente y de origen genético, del transporte tubular proximal caracterizado por una producción excesiva de orina con pérdida de solutos de bajo peso molecular (aminoácidos, glucosa, proteínas, ácidos orgánicos, carnitina, calcio, fosfato, potasio, bicarbonato) y agua, que puede resultar de amenaza a la vida."},"it":{"name":"Sindrome di Fanconi renotubulare primitiva","synonyms":["Sindrome renotubulare di Fanconi primitiva"],"definition":"Si tratta di una malattia genetica rara e generalizzata del trasporto tubulare prossimale, caratterizzata da un'eccessiva produzione di urina associata a perdita di soluti a basso peso molecolare (aminoacidi, glucosio, proteine a basso peso molecolare, acidi organici, carnitina, calcio, fosfato, potassio, bicarbonato) e di acqua. La malattia è potenzialmente letale."},"nl":{"name":"Primair renotubulair syndroom van Fanconi","synonyms":["Primair renaal syndroom van Fanconi","Syndroom van DeToni-Debré-Fanconi"],"definition":"Een zeldzame, gegeneraliseerde, genetische aandoening van proximaal tubulair transport, gekarakteriseerd door excessieve urineproductie met verlies van opgeloste stoffen met laag moleculair gewicht (aminozuren, glucose, laagmoleculaire eiwitten, organische zuren, carnitine, calcium, fosfaat, kalium, bicarbonaat) en water, en mogelijk levensbedreigend."},"pt":{"name":"Síndrome Fanconi primário renotubular","synonyms":["Síndrome Fanconi primária renal","Síndrome Toni-Debré-Fanconi"]},"pl":{"name":"Pierwotny zespół Fanconiego","synonyms":["Pierwotny zespół nerkowo-kanalikowy Fanconiego"]},"cs":{"name":"Primární Fanconiho syndrom","synonyms":["Primární Fanconiho renotubulární syndrom"]},"uk":{"name":"Первинний ренотубулярний синдром Фанконі","synonyms":["Синдром ДеТоні-Дебре-Фанконі","Первинний нирковий синдром Фанконі"],"definition":"A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening."},"zh":{"name":"原发性范可尼肾小管综合征","synonyms":["原发性范可尼肾综合征"]},"tr":{"name":"Primer Fankoni renotubular sendromu","synonyms":["DeToni-Debré-Fanconi sendromu","Primer Fanconi böbrek sendromu"]}},"xrefs":[{"source":"OMIM","code":"134600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613388","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615605","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618913","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"GB90.42","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"788002727"},{"source":"UMLS","code":"C1857395","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"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":[],"genes":[{"symbol":"SLC34A1","name":"solute carrier family 34 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20335586[PMID]","hgnc":"11019","ensembl":"ENSG00000131183","omim":"182309","loci":["5q35.3"]},{"symbol":"EHHADH","name":"enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24401050[PMID]","hgnc":"3247","ensembl":"ENSG00000113790","omim":"607037","loci":["3q27.2"]},{"symbol":"GATM","name":"glycine amidinotransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29654216[PMID]","hgnc":"4175","ensembl":"ENSG00000171766","omim":"602360","loci":["15q21.1"]},{"symbol":"NDUFAF6","name":"NADH:ubiquinone oxidoreductase complex assembly factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27466185[PMID]","hgnc":"28625","ensembl":"ENSG00000156170","omim":"612392","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-05","source":"30454741[PMID]_33283647[PMID]_31474092[PMID]","terms":[{"hpo":"HP:0032943","label":"Abnormal urine pH","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004910","label":"Bicarbonate-wasting renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003646","label":"Bicarbonaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002909","label":"Generalized aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003126","label":"Low-molecular-weight proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002049","label":"Proximal renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004912","label":"Hypophosphatemic rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003537","label":"Hypouricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003081","label":"Increased urinary potassium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012606","label":"Renal sodium wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","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:0001943","label":"Hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null}]}}