{"orpha":3196,"name":"Steroid dehydrogenase deficiency-dental anomalies syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Lyngstadaas syndrome"],"definition":"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3196/","orphanet_url":"https://www.orpha.net/en/disease/detail/3196","names":{"fr":{"name":"Syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires","synonyms":["Syndrome de Lyngstadaas"],"definition":"Maladie métabolique hépatique rare, caractérisée par une maladie hépatique progressive et une cirrhose précoce dues à l'accumulation de métabolites toxiques du cholestérol qui peuvent être détectés dans la bile, le plasma et les urines. Des anomalies dentaires sont également associées, à savoir une hypominéralisation générale et une hypoplasie de l'émail dentaire, ainsi que des dents surnuméraires. Aucun cas n'a été décrit dans la littérature depuis 1996."},"de":{"name":"Steroid-Dehydrogenase-Mangel-Zahnanomalien-Syndrom","synonyms":["Lyngstadaas-Syndrom"],"definition":"Eine seltene Stoffwechselerkrankung der Leber, die durch progrediente Lebererkrankung und frühe Leberzirrhose aufgrund der Akkumulation toxischer Cholesterinmetaboliten, die in Galle, Plasma und Urin nachweisbar sind, gekennzeichnet ist und mit dentalen Anomalien wie allgemeiner Hypomineralisierung und Schmelzhypoplasie sowie dem Auftreten überzähliger Zähne einhergeht. Seit 1996 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de deficiencia de esteroide deshidrogenasa-anomalías dentales","synonyms":["Síndrome de Lyngtadaas"],"definition":"Es una enfermedad metabólica del hígado poco frecuente caracterizada por enfermedad hepática progresiva y cirrosis precoz debido al acúmulo de metabolitos tóxicos del colesterol detectables en la bilis, el plasma y la orina, en asociación con anomalías dentales como hipomineralización generalizada e hipoplasia del esmalte, así como la presencia de dientes supernumerarios. No ha habido más descripciones en la literatura desde 1996."},"it":{"name":"Sindrome deficit di steroido deidrogenasi-anomalie dentali","synonyms":["Sindrome di Lyngtadaas"],"definition":"Si tratta di una malattia epatica metabolica rara, caratterizzata da epatopatia progressiva e cirrosi ad esordio precoce, causate dall'accumulo di metaboliti tossici del colesterolo nella bile, nel plasma e nelle urine, associate ad anomalie dei denti (ipomineralizzazione generalizzata, ipoplasia dello smalto, e denti soprannumerari). Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Steroïdedehydrogenasedeficiëntie - dentale anomalieën-syndroom","synonyms":["Syndroom van Lyngstadaas"],"definition":"Een zeldzame metabole aandoening van lever, gekenmerkt door progressieve leverziekte en vroege cirrose door accumulatie van toxische metabolieten van cholesterol, die worden gedetecteerd in gal, plasma en urine, in associatie met dentale anomalieën zoals algemene hypomineralisatie en hypoplasie van tandglazuur, alsook boventallige tanden. Sinds 1996 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome de deficiência de esteróide desidrogenase-anomalias dentárias","synonyms":["Síndrome Lyngstadaas"]},"pl":{"name":"Niedobór dehydrogenazy steroidowej - wady zębów","synonyms":["Zespół Lyngstadaasa"]},"cs":{"name":"Syndrom zahrnující deficit steroidní dehydrogenázy a zubní anomálie","synonyms":["Lyngstadaasův syndrom"]},"uk":{"name":"Синдром дефіциту стероїдної дегідрогенази - зубні аномалії","synonyms":["Синдром Лінгстадааса"],"definition":"A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996."},"zh":{"name":"甾类脱氢酶缺乏-牙齿畸形综合征","synonyms":["Lyngstadaas综合征"]},"tr":{"name":"Steroid dehidrojenaz eksikliği-diş anomalileri sendromu","synonyms":["Lyngstadaas sendromu"]}},"xrefs":[{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931508","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5015","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8832133[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8832133[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very frequent (99-80%)","criteria":null}]}}