{"orpha":1031,"name":"Enamel-renal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Amelogenesis imperfecta-nephrocalcinosis syndrome"],"definition":"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1031/","orphanet_url":"https://www.orpha.net/en/disease/detail/1031","names":{"fr":{"name":"Syndrome d'amélogenèse imparfaite-néphrocalcinose","synonyms":["Syndrome ERS","Syndrome rein-émail"],"definition":"Malformation syndromique génétique extrêmement rare, caractérisée par une amélogénèse imparfaite hypoplasique (hypoplasie de l'émail dentaire) et une néphrocalcinose (présence de dépôts de calcium au sein du parenchyme rénal). Parmi les anomalies bucco-dentaires, on observe des dents jaunâtres et malformées, une éruption dentaire retardée et les calcifications intrapulpaires. La néphrocalcinose est souvent asymptomatique, mais peut évoluer à la fin de l'enfance ou au début de l'âge adulte vers une altération de la fonction rénale, des infections urinaires récurrentes, une acidose tubulaire rénale et plus rarement vers une insuffisance rénale terminale."},"de":{"name":"Zahnschmelz-Niere-Syndrom","synonyms":["Amelogenesis imperfecta-Nephrokalzinose-Syndrom"],"definition":"Ein extrem seltenes Syndrom mit hypoplastischer Amelogenesis imperfecta (hypoplastischer Zahnschmelz) und Nephrokalzinose (Präzipitation von Kalziumssalzen im Nierengewebe). Symptome im Mund sind: Gelbe fehlgeformte Zähne, verspäteter Zahndurchbruch und intrapulpale Kalzifikationen. Die Nephrokalzinose ist oft symptomfrei, im späten Kindes- oder frühen Erwachsenenalter kann sich aber eine Nierenfunktionsstörung (rezidivierende Harnwegsinfektionen und renale tubuläre Azidose) entwickeln. Eine terminale Niereninsuffizienz ist selten."},"es":{"name":"Síndrome esmalte-renal","synonyms":["Síndrome de amelogénesis imperfecta-nefrocalcinosis"],"definition":"Es un síndrome malformativo de origen genético y extremadamente infrecuente caracterizado por amelogénesis imperfecta hipoplásica (hipoplasia del esmalte dental) y nefrocalcinosis (precipitación de sales de calcio en el tejido renal). Las manifestaciones orales incluyen dientes amarillentos y malformados, erupción dental tardía y calcificaciones intrapulpares. A menudo, la nefrocalcinosis es asintomática, aunque puede evolucionar durante la infancia tardía o la edad adulta temprana a una alteración de la función renal, infecciones urinarias recurrentes, acidosis tubular renal y, ocasionalmente, a insuficiencia renal terminal."},"it":{"name":"Sindrome smalto-renale","definition":"Si tratta di una malattia malformativa genetica molto rara, caratterizzata da amelogenesi imperfetta ipoplastica (ipoplasia dello smalto dei denti) e nefrocalcinosi (precipitazione di sali di calcio nel tessuto renale). Le anomalie del cavo orale comprendono i denti gialli e malformati, il ritardo dell'eruzione dei denti e le calcificazioni intrapulpari. Spesso la nefrocalcinosi è asintomatica, ma può progredire, nella tarda infanzia o nella prima età adulta, verso la compromissione della funzione renale, le infezioni urinarie ricorrenti, l'acidosi tubulare renale e, raramente, l'insufficienza renale allo stadio terminale."},"nl":{"name":"Tandglazuur - nieren-syndroom","synonyms":["Amelogenesis imperfecta - nefrocalcinose-syndroom"],"definition":"Een uiterst zeldzaam, genetisch malformatiesyndroom gekarakteriseerd door hypoplastische amelogenesis imperfecta (hypoplastisch tandglazuur) en nefrocalcinose (neerslag van calciumzouten in nierweefsel). Orale manifestaties zijn onder meer gele en misvormde tanden, vertraagd uitkomen van de tanden, en verkalking in de tandholtes. Nefrocalcinose is vaak asymptomatisch maar kan tijdens de late kindertijd of vroege volwassenheid evolueren naar een verstoorde nierfunctie, terugkerende urine-infecties, renale tubulaire acidose, en in zeldzame gevallen tot eindstadium nierfalen."},"pt":{"name":"Síndrome esmalte-renal","synonyms":["Amelogénese imperfeita-nefrocalcinose"]},"pl":{"name":"Zespół wrodzonego niedorozwóju szkliwa i nefrokalcynozy","synonyms":["Amelogenesis imperfecta-nephrocalcinosis syndrome"]},"cs":{"name":"Syndrom zahrnující amelogenesis imperfecta a nefrokalcinózu","synonyms":["Amelogenesis imperfecta-nephrocalcinosis syndrome"]},"uk":{"name":"Емалево-нирковий синдром","synonyms":["Синдром недосконалого амелогенезу - нефрокальциноз"],"definition":"A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure."},"zh":{"name":"牙釉质-肾病综合征","synonyms":["牙釉质发育不全-肾病综合征"]},"tr":{"name":"Emaye-böbrek sendromu","synonyms":["Amelojenez imperfekta-nefrokalsinoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"204690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"901063273"},{"source":"MONDO","code":"0008771","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"646","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":171836,"name":"Amelogenesis imperfecta-gingival hyperplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"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":"FAM20A","name":"FAM20A golgi associated secretory pathway pseudokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23434854[PMID]","hgnc":"23015","ensembl":"ENSG00000108950","omim":"611062","loci":["17q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"21212699[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-24","source":"40089179[PMID]_12597691[PMID]_3872071[PMID]_21549343[PMID]","terms":[{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031428","label":"Increased circulating osteocalcin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003127","label":"Hypocalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012405","label":"Hypocitraturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012365","label":"Hypophosphaturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011079","label":"Impacted tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004727","label":"Impaired renal concentrating ability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003771","label":"Pulp calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009102","label":"Anterior open-bite malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012101","label":"Decreased serum creatinine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very rare (<4-1%)","criteria":null}]}}