{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-833/","orphanet_url":"https://www.orpha.net/en/disease/detail/833","names":{"fr":{"name":"Encéphalopathie par déficit en sulfite oxydase","definition":"L'encéphalopathie par déficit en sulfite oxydase est un trouble neurométabolique rare caractérisé par des convulsions, une encéphalopathie progressive et une luxation du cristallin."},"de":{"name":"Enzephalopathie durch Sulfitoxidase-Mangel","definition":"Die Enzephalopathie durch Sulfitoxidase-Mangel ist eine seltene neurometabolische Erkrankung und gekennzeichnet durch Krampfanfälle, progrediente Enzephalopathie und Linsendislokation."},"es":{"name":"Encefalopatía por deficiencia de sulfito oxidasa","definition":"La encefalopatía debida a la deficiencia de sulfito oxidasa es un trastorno neurometabólico poco común caracterizado por convulsiones, encefalopatía progresiva y luxación del cristalino."},"it":{"name":"Encefalopatia da deficit di solfito ossidasi","definition":"L'encefalopatia da deficit di solfito ossidasi è una malattia rara neurometabolica caratterizzata da convulsioni, encefalopatia progressiva e lussazione del cristallino."},"nl":{"name":"Encefalopathie door sulfietoxidasedeficiëntie","definition":"Encefalopathie als gevolg van sulfietoxidasedeficiëntie is een zeldzame neurometabole aandoening gekenmerkt door epileptische aanvallen, progressieve encefalopathie en lensdislocatie."},"pt":{"name":"Encefalopatia devido à deficiência de sulfito oxidase","definition":"A encefalopatia por défice de sulfito-oxidase é uma doença neurometabólica rara caracterizada por convulsões, encefalopatia progressiva e luxação do cristalino."},"pl":{"name":"Encefalopatia spowodowana niedoborem oksydazy siarczynowej"},"cs":{"name":"Encefalopatie způsobená deficitem sulfitoxidázy"},"uk":{"name":"Енцефалопатія, зумовлена дефіцитом сульфітоксидази","definition":"Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation."},"zh":{"name":"亚硫酸盐氧化酶缺乏所致脑病"},"tr":{"name":"Sülfit oksidaz eksikliğine bağlı ensefalopati"}},"xrefs":[{"source":"OMIM","code":"252150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252160","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"272300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615501","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"681037681"},{"source":"MONDO","code":"0019358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[{"orpha":99731,"name":"Isolated sulfite oxidase deficiency","type":"Clinical subtype"},{"orpha":99732,"name":"Sulfite oxidase deficiency due to molybdenum cofactor deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SUOX","name":"sulfite oxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11460","ensembl":"ENSG00000139531","omim":"606887","loci":["12q13.2"],"via":{"orpha":99731,"name":"Isolated sulfite oxidase deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null}]}}