{"orpha":544628,"name":"Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-544628/","orphanet_url":"https://www.orpha.net/en/disease/detail/544628","names":{"fr":{"name":"Syndrome de Fanconi atypique-hyperinsulinisme néonatal","definition":"Maladie génétique rare caractérisée par l'association du syndrome de Fanconi et de la néphrocalcinose, ainsi que de l'hyperinsulinisme et de la macrosomie néonataux. Les patients présentent un phénotype de tubulopathie proximale caractérisé par une aminoacidurie généralisée, une protéinurie de faible poids moléculaire, une glycosurie, une hyperphosphaturie et une hypo-uricémie, ainsi que d'autres caractéristiques qui ne sont habituellement pas observées dans le syndrome de Fanconi (en dehors de la néphrocalcinose), à savoir une insuffisance rénale, une hypercalciurie avec une hypocalcémie relative et une hypermagnésémie."},"de":{"name":"Atypisches Fanconi-Syndrom-neonataler Hyperinsulinismus-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch die Assoziation von Fanconi-Syndrom und Nephrokalzinose zusätzlich zu neonatalem Hyperinsulinismus und Makrosomie gekennzeichnet ist. Die Patienten weisen eine proximalen Tubulopatie auf, die durch eine generalisierte Aminosäureurie, eine niedermolekulare Proteinurie, eine Glykosurie, eine Hyperphosphaturie und eine Hypourikämie gekennzeichnet ist, sowie durch zusätzliche Merkmale, die normalerweise beim Fanconi-Syndrom (abgesehen von der Nephrokalzinose) nicht auftreten, nämlich Nierenfunktionsstörungen, Hyperkalziurie mit relativer Hypokalzämie und Hypermagnesiämie."},"es":{"name":"Síndrome de Fanconi atípico-hiperinsulinismo neonatal","definition":"Es una enfermedad genética poco frecuente caracterizada por la asociación de síndrome de Fanconi y nefrocalcinosis junto con hiperinsulinismo neonatal y macrosomía. Los pacientes muestran un fenotipo de tubulopatía proximal caracterizada por aminoaciduria generalizada, proteinuria de bajo peso molecular, glucosuria, hiperfosfaturia e hipouricemia, y características adicionales que, por lo general, no se observan en el síndrome de Fanconi (aparte de la nefrocalcinosis), como insuficiencia renal, hipercalciuria con hipocalcemia relativa e hipermagnesemia."},"it":{"name":"Sindrome di Fanconi atipica associata a iperinsulinismo neonatale"},"nl":{"name":"Atypisch syndroom van Fanconi - neonataal hyperinsulinisme-syndroom","definition":"Een zeldzame genetische aandoening, gekenmerkt door de associatie van Fanconi-syndroom en nefrocalcinose, bovenop neonataal hyperinsulinisme en macrosomie. Patiënten vertonen een fenotype van proximale tubulopathie, gekenmerkt door gegeneraliseerde aminoacidurie, proteïnurie van eiwit met laag moleculair gewicht, glucosurie, hyperfosfaturie en hypo-urikemie, en bijkomende kenmerken die normaal gezien niet worden waargenomen bij Fanconi-syndroom (behalve dan nefrocalcinose), zijnde nierfunctiestoornis, hypercalciurie met relatieve hypocalciëmie, en hypermagnesiëmie."},"pt":{"name":"Síndrome de Fanconi atípico-hiperinsulinismo neonatal","definition":"Doença genética rara caracterizada pela associação de síndrome de Fanconi e nefrocalcinose, além de hiperinsulinismo neonatal e macrossomia. Os doentes apresentam um fenótipo de tubulopatia proximal caracterizada por aminoacidúria generalizada, proteinúria de baixo peso molecular, glicosúria, hiperfosfatúria e hipouricemia e características adicionais não normalmente observadas na síndrome de Fanconi (além da nefrocalcinose), nomeadamente insuficiência renal, hipercalciúria com hipocalcemia relativa e hipermagnesemia."},"pl":{"name":"Zespół Fanconiego atypowy z zespołem hiperinsulinizmu noworodkowego"},"cs":{"name":"Syndrom zahrnující atypický Fanconiho syndrom a neonatální hyperinzulinismus"},"uk":{"name":"Атиповий синдром Фанконі - синдром неонатального гіперінсулінізму","definition":"A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia."},"zh":{"name":"非典型范可尼综合征-新生儿高胰岛素血症综合征"},"tr":{"name":"Atipik Fanconi sendromu-yenidoğan hiperinsülinizm sendromu"}},"xrefs":[{"source":"OMIM","code":"616026","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.42","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034110","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":276525,"name":"Familial hyperinsulinism","classifications":[156,193]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":181376,"name":"Rare diabetes mellitus type 2","classifications":[193]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"HNF4A","name":"hepatocyte nuclear factor 4 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24285859[PMID]","hgnc":"5024","ensembl":"ENSG00000101076","omim":"600281","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24285859[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24285859[PMID]"}],"phenotypes":null}