{"orpha":216981,"name":"Niemann-Pick disease type C, juvenile neurologic onset","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Niemann-Pick disease type C, classic form"],"definition":null,"note":"This disease is described under Niemann-Pick disease type C","url":"https://raremap.alftech.space/d/ORPHA-216981/","orphanet_url":"https://www.orpha.net/en/disease/detail/216981","names":{"fr":{"name":"Maladie de Niemann-Pick type C, forme neurologique juvénile","synonyms":["Maladie de Niemann-Pick type C, forme classique"]},"de":{"name":"Niemann-Pick-Krankheit Typ C, juvenile neurologische Form","synonyms":["Niemann-Pick-Krankheit Typ C, klassische Form"]},"es":{"name":"Enfermedad de Niemann-Pick tipo C, forma neurológica juvenil","synonyms":["Enfermedad de Niemann-Pick tipo C, forma clásica"]},"it":{"name":"Malattia di Niemann-Pick tipo C, con insorgenza giovanile del quadro neurologico","synonyms":["Malattia di Niemann-Pick tipo C, forma classica"]},"nl":{"name":"Ziekte van Niemann-Pick type C, juveniele neurologische aanvang","synonyms":["Ziekte van Niemann-Pick type C, klassieke vorm"]},"pt":{"name":"Doença de Niemann-Pick tipo C com apresentação neurológica juvenil"},"pl":{"name":"Choroba Niemanna i Picka typu C, postać młodzieńcza o początku neurologicznym","synonyms":["Choroba Niemanna i Picka typu C, postać klasyczna"]},"cs":{"name":"Niemannova-Pickova nemoc, typ C, juvenilní neurologická manifestace/nástup","synonyms":["Niemannova-Pickova nemoc, typ C, klasická forma","Niemann-Pickova nemoc, typ C, juvenilní neurologická manifestace/nástup","Niemann-Pickova nemoc, typ C, klasická forma"]},"uk":{"name":"Хвороба Німана-Піка, тип С, ювенільний неврологічний початок","synonyms":["Хвороба Німана-Піка, тип С, класична форма"]},"zh":{"name":"神经系统起病的青少年期尼曼-皮克病C型","synonyms":["典型尼曼-皮克病C型"]},"tr":{"name":"Niemann-Pick hastalığı tip C, juvenil nörolojik başlangıçlı","synonyms":["Niemann-Pick hastalığı tip C, klasik form"]}},"xrefs":[{"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":"2006062681"},{"source":"MONDO","code":"0016309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":646,"name":"Niemann-Pick disease type C","classifications":[150,152,156,181,184,189,233]}],"children":[],"genes":[{"symbol":"NPC1","name":"NPC intracellular cholesterol transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301473[PMID]","hgnc":"7897","ensembl":"ENSG00000141458","omim":"607623","loci":["18q11.2"]},{"symbol":"NPC2","name":"NPC intracellular cholesterol transporter 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301473[PMID]","hgnc":"14537","ensembl":"ENSG00000119655","omim":"601015","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}