{"orpha":46059,"name":"Lathosterolosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sterol C5-desaturase deficiency"],"definition":"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46059/","orphanet_url":"https://www.orpha.net/en/disease/detail/46059","names":{"fr":{"name":"Lathostérolose","synonyms":["Déficit en stérol C5-désaturase"],"definition":"Erreur innée rare de la biosynthèse des stérols qui se caractérise par une dysmorphie faciale, des anomalies congénitales (y compris des anomalies des membres et des reins), un retard de croissance, un retard de développement et une maladie du foie."},"de":{"name":"Lathosterolose","synonyms":["Sterol C5-Desaturase-Mangel"],"definition":"Die Lathosterolose ist ein extrem seltener angeborener Fehler in der Sterolbiosynthese, der durch Gesichtsdysmorphien, kongenitale Anomalien (einschließlich Gliedmaßen- und Nierenanomalien), Gedeihstörungen, Entwicklungsverzögerungen und Lebererkrankungen gekennzeichnet ist."},"es":{"name":"Latosterolosis","synonyms":["Deficiencia de esterol-C5-desaturasa"],"definition":"La latosterolosis es un error congénito de la biosíntesis de colesterol extremadamente raro que se caracteriza por dismorfia facial, anomalías congénitas (incluyendo anomalías de las extremidades y renales), desmedro (pobre ganancia de peso y talla) retraso del desarrollo y enfermedad hepática."},"it":{"name":"Latosterolosi","synonyms":["Deficit di sterolo C5-desaturasi"],"definition":"La latosterolosi è un difetto congenito molto raro della biosintesi dello sterolo, caratterizzato da dismorfismi facciali, anomalie congenite (renali e degli arti), ritardo della crescita, ritardo dello sviluppo ed epatopatia."},"nl":{"name":"Lathosterolose","synonyms":["Deficiëntie van sterol C5-desaturase"],"definition":"Lathosterolosis is een uiterst zeldzame aangeboren afwijking van de sterolbiosynthese, gekenmerkt door gelaatsdysmorfie, aangeboren afwijkingen (waaronder afwijkingen van ledematen en nieren), onvermogen om te gedijen, vertraging in de ontwikkeling en leverziekte."},"pt":{"name":"Latosterolose","synonyms":["Esterol C-5 dessaturase"]},"pl":{"name":"Latosteroloza","synonyms":["Niedobór C5-desaturazy sterolowej"]},"cs":{"name":"Lathosterolóza","synonyms":["Deficit sterol C5-desaturázy"]},"uk":{"name":"Латостеролоз","synonyms":["Дефіцит стерол С5-десатурази"],"definition":"Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease."},"zh":{"name":"3β-羟类固醇脱氢酶缺陷症","synonyms":["3β-羟类固醇脱氢酶缺乏症"]},"tr":{"name":"Latosteroloz","synonyms":["Sterol C5-desatüraz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"607330","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":"1816858203"},{"source":"MONDO","code":"0011816","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846421","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]}],"children":[],"genes":[{"symbol":"SC5D","name":"sterol-C5-desaturase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12812989[PMID]","hgnc":"10547","ensembl":"ENSG00000109929","omim":"602286","loci":["11q23.3-q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24142275[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":"2016-06-01","source":"24142275[PMID]_17853487[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011875","label":"Abnormal platelet morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100711","label":"Abnormality of the thoracic spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004823","label":"Anisopoikilocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008278","label":"Cerebellar cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001406","label":"Intrahepatic cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null}]}}