{"orpha":35121,"name":"Lysosomal acid phosphatase deficiency","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1970.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35121/","orphanet_url":"https://www.orpha.net/en/disease/detail/35121","names":{"fr":{"name":"Déficit en phosphatase acide lysosomale","definition":"Maladie lysosomale rare caractérisée par des vomissements intermittents, une hypotonie, une léthargie, un opisthotonos, dont l'issue est fatale dans la petite enfance. Elle est associée à un déficit en phosphatase acide dans les lysosomes. Aucun cas n'a été décrit dans la littérature depuis 1971."},"de":{"name":"Saure Phosphatase-Mangel, lysosomaler","definition":"Eine seltene lysosomale Erkrankung, die durch intermittierendes Erbrechen, Hypotonie, Lethargie, Opisthotonus und einen tödlichen Ausgang im frühen Säuglingsalter gekennzeichnet ist und mit einem Mangel an saurer Phosphatase in den Lysosomen einhergeht. Seit 1971 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Deficiencia de fosfatasa ácida lisosomal","definition":"Es una enfermedad lisosomal poco frecuente caracterizada por vómitos intermitentes, hipotonía, letargia, opistótonos y un desenlace fatal en la primera infancia, asociada a deficiencia de fosfatasa ácida lisosomal. No ha habido más descripciones en la literatura desde 1971."},"it":{"name":"Deficit di fosfatasi acida lisosomiale","definition":"Si tratta di una malattia lisosomiale rara, caratterizzata da vomito intermittente, ipotonia, letargia, opistotono e morte nella prima infanzia, causata dal deficit di fosfatasi acida nei lisosomi. Non sono stati descritti nuovi casi dopo il 1971."},"nl":{"name":"Lysosomale zure fosfatasedeficiëntie","definition":"Een zeldzame lysosomale aandoening, gekenmerkt door intermitterend braken, hypotonie, lethargie, opisthotonus, en fatale uitkomst in de vroege zuigelingentijd, geassocieerd met deficiëntie van zure fosfatase in lysosomen. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Deficiência de fosfatase ácida lisossomal"},"pl":{"name":"Niedobór kwaśnej fosfatazy"},"cs":{"name":"Deficit kyselé fosfatázy"},"uk":{"name":"Дефіцит лізосомальної кислої фосфатази","definition":"A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971."},"zh":{"name":"溶酶体酸性磷酸酶缺乏症"},"tr":{"name":"Lizozomal asit fosfataz eksikliği"}},"xrefs":[{"source":"OMIM","code":"200950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C64.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"641498786"},{"source":"MONDO","code":"0008705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}