{"orpha":139406,"name":"Encephalopathy due to prosaposin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined prosaposin deficiency"],"definition":"A rare neurometabolic disease characterized by severe neurologic symptoms including grand mal seizures, massive myoclonic bursts, hypotonia, abnormal ocular movements, dystonia and hepatosplenomegaly. Symptoms appear at or shortly after birth and follow a rapidly progressive fatal course. All patients manifest with lipid accumulation due to lysosomal dysfunction with histologic findings of accumulation of various sphingolipids (e.g., glucosylceramide, ceramide, sulfatides, globotriaosylceramide).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139406/","orphanet_url":"https://www.orpha.net/en/disease/detail/139406","names":{"fr":{"name":"Encéphalopathie par déficit en prosaposine","synonyms":["Déficit global en prosaposine"],"definition":"Maladie neurométabolique rare caractérisée par des symptômes neurologiques graves, notamment des crises de grand mal, des accès myocloniques massifs, une hypotonie, des mouvements oculaires anormaux, une dystonie et une hépatosplénomégalie. Les symptômes apparaissent à la naissance ou peu après et évoluent rapidement vers le décès. Tous les patients présentent une accumulation de lipides due à un dysfonctionnement lysosomal et une accumulation de divers sphingolipides (glucosylcéramide, céramide, sulfatides, globotriaosylcéramide) mise en évidence par examen histologique."},"de":{"name":"Enzephalopathie durch Prosaposin-Mangel","synonyms":["Prosaposin-Mangel, kombinierter"],"definition":"Eine seltene Sphingolipidose, die durch schwere neurologische Symptome wie massive myoklonische Ausbrüche, Hypotonie, abnorme Augenbewegungen, Dystonie und Hepatosplenomegalie gekennzeichnet ist. Grand-mal-Anfälle und durch taktile Reize ausgelöste Anfälle können ebenfalls auftreten. Die Patienten entwickeln außerdem eine Hepatosplenomegalie. Die Symptome treten unmittelbar nach der Geburt auf und verlaufen schnell progressiv und tödlich (innerhalb von 1 bis 4 Monaten), in der Regel aufgrund eines Atemversagens nach wiederholten Lungeninfektionen."},"es":{"name":"Encefalopatía por deficiencia de prosaposina","synonyms":["Deficiencia combinada de prosaposina","Deficiencia de prosaposina combinada"],"definition":"Es una enfermedad neurometabólica poco frecuente caracterizada por síntomas neurológicos graves, como crisis de gran mal, descargas mioclónicas masivas, hipotonía, movimientos oculares anómalos, distonía y hepatoesplenomegalia. Los síntomas se manifiestan al nacer o poco después, y siguen un curso rápidamente progresivo y mortal. Todos los pacientes presentan un acúmulo de lípidos debido a una disfunción lisosomal, con hallazgos histológicos de depósito de diversos esfingolípidos (como glucosilceramida, ceramida, sulfátidos o globotriaosilceramida)."},"it":{"name":"Encefalopatia da deficit di prosaposina","synonyms":["Deficit combinato di prosaposina"]},"nl":{"name":"Encefalopathie door deficiëntie van prosaposine","synonyms":["Gecombineerde deficiëntie van prosaposine"],"definition":"Een zeldzame neurometabole aandoening, gekenmerkt door ernstige neurologische symptomen waaronder tonisch-clonische (grand mal) insulten, massale myoclonische aanvallen, hypotonie, abnormale oogbewegingen, dystonie en hepatosplenomegalie. Symptomen verschijnen bij of kort na de geboorte en volgen een snel progressief fataal verloop. Alle patiënten vertonen accumulatie van lipiden door disfunctie van lysosomen met histologische bevindingen van accumulatie van verschillende sfingolipiden (bijvoorbeeld glucosylceramide, ceramide, sulfatiden, globotriaosylceramide)."},"pt":{"name":"Encefalopatia por deficiência de prosaposina","definition":"A encefalopatia por deficiência da prosaposina é uma doença do armazenamento lisossomal pertencente ao grupo das esfingolipidoses."},"pl":{"name":"Encefalopatia z powodu niedoboru prosapozyny","synonyms":["Złożony Niedobór prosapozyny"]},"cs":{"name":"Encefalopatie způsobená deficitem prosaposinu","synonyms":["Kombinovaný deficit prosaposinu"]},"uk":{"name":"Енцефалопатія внаслідок дефіциту просапозину","synonyms":["Комбінований дефіцит просапозину"],"definition":"A lysosomal storage disease belonging to the group of sphingolipidoses."},"zh":{"name":"鞘脂激活蛋白原缺乏所致脑病","synonyms":["联合型鞘脂激活蛋白原缺乏"],"definition":"属于鞘脂类代谢障碍的一种溶酶体贮积症。"},"tr":{"name":"Prosaposin eksikliğine bağlı ensefalopati","synonyms":["Kombine prosaposin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"611721","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"935370911"},{"source":"MONDO","code":"0012719","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PSAP","name":"prosaposin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1371116[PMID]","hgnc":"9498","ensembl":"ENSG00000197746","omim":"176801","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":null,"terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}