{"orpha":35107,"name":"Desmosterolosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35107/","orphanet_url":"https://www.orpha.net/en/disease/detail/35107","names":{"fr":{"name":"Desmostérolose","definition":"Anomalie rare de la biosynthèse du stérol caractérisée par de multiples anomalies congénitales, un retard de croissance et une déficience intellectuelle, ainsi que des taux élevés de desmostérol."},"de":{"name":"Desmosterolose"},"es":{"name":"Desmosterolosis","definition":"La desmosterolosis es un trastorno muy poco frecuente de la biosíntesis de esteroles caracterizado por múltiples anomalías congénitas, retraso del crecimiento, y discapacidad intelectual con niveles elevados de desmosterol."},"it":{"name":"Desmosterolosi","definition":"La desmosterolosi è causata da un difetto molto raro della biosintesi, ed è caratterizzata da anomalie congenite multiple, ritardo dello sviluppo e disabilità cognitiva, con livelli elevati di desmosterolo."},"nl":{"name":"Desmosterolosis","definition":"Desmosterolosis is een zeer zeldzame stoornis van de sterolbiosynthese die wordt gekarakteriseerd door meervoudige congenitale anomalieën, groeiachterstand, en intellectuele achterstand, met verhoogde gehaltes van desmosterol."},"pt":{"name":"Desmosterolose"},"pl":{"name":"Desmosteroloza"},"cs":{"name":"Desmosterolóza"},"uk":{"name":"Дезмостеророз","definition":"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol."},"zh":{"name":"链甾醇病"},"tr":{"name":"Desmosteroloz"}},"xrefs":[{"source":"OMIM","code":"602398","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2108931494"},{"source":"MONDO","code":"0011217","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865596","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10283","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93443,"name":"Neonatal osteosclerotic dysplasia","classifications":[147,156,199]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"DHCR24","name":"24-dehydrocholesterol reductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21671375[PMID]","hgnc":"2859","ensembl":"ENSG00000116133","omim":"606418","loci":["1p32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"29175559[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29175559[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-22","source":"21671375[PMID]_24961299[PMID]","terms":[{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent 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