{"orpha":216975,"name":"Niemann-Pick disease type C, severe early infantile neurologic onset","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Niemann-Pick disease type C","url":"https://raremap.alftech.space/d/ORPHA-216975/","orphanet_url":"https://www.orpha.net/en/disease/detail/216975","names":{"fr":{"name":"Maladie de Niemann-Pick type C sévère, forme neurologique précoce de l'enfant"},"de":{"name":"Niemann-Pick-Krankheit Typ C, schwere früh-infantile neurologische Form"},"es":{"name":"Enfermedad de Niemann-Pick tipo C, forma neurológica grave de inicio en la primera infancia"},"it":{"name":"Malattia di Niemann-Pick tipo C, con insorgenza infantile precoce grave del quadro neurologico"},"nl":{"name":"Ziekte van Niemann-Pick type C, ernstig met vroeg infantiele neurologische aanvang"},"pt":{"name":"Doença de Niemann-Pick tipo C, com apresentação neurológica grave precoce do latente"},"pl":{"name":"Choroba Niemanna i Picka typu C, ciężka postać wczesnodziecięca o początku neurologicznym"},"cs":{"name":"Niemannova-Pickova nemoc, typ C, těžká časně infantilní neurologická manifestace/nástup","synonyms":["Niemann-Pickova nemoc, typ C, těžká časně infantilní neurologická manifestace/nástup"]},"uk":{"name":"Хвороба Німана-Піка, тип С, важкий ранній інфантильний неврологічний початок"},"zh":{"name":"重度神经系统起病的婴儿早期尼曼-皮克病C型"},"tr":{"name":"Niemann-Pick hastalığı tip C, ağır erken infantil nörolojik başlangıçlı"}},"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":"587642791"},{"source":"MONDO","code":"0016307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680868","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":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}