{"orpha":289863,"name":"Atypical glycine encephalopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Atypical non-ketotic hyperglycinemia","Atypical NKA"],"definition":"A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289863/","orphanet_url":"https://www.orpha.net/en/disease/detail/289863","names":{"fr":{"name":"Encéphalopathie glycinique atypique","synonyms":["Hyperglycinémie non cétosique atypique","NKA atypique"],"definition":"L'encéphalopathie glycinique atypique est une forme rare d'encéphalopathie glycinique (GE) avec un début et des manifestations différentes des formes néonatales et infantiles."},"de":{"name":"Glycin-Enzephalopathie, atypische","synonyms":["Atypische nicht ketotische Hyperglycinämie","NKH, atypisch"],"definition":"Die atypische Glycin-Enzephalopathie ist eine seltene Form der Glycin-Enzephalopathie (GE; siehe dort), bei der Erkrankungsalter und klinischen Symptome von dem bzw. denen der neonatalen oder der infantilen GE unterscheiden."},"es":{"name":"Encefalopatía por glicina atípica","synonyms":["Hiperglicemia no cetósica atípica","NKA atípica"],"definition":"Es una forma poco frecuente de encefalopatía por glicina (EG) en la que el inicio de las manifestaciones clínicas de la enfermedad difieren de la EG neonatal o infantil."},"it":{"name":"Encefalopatia da glicina, atipica","synonyms":["Iperglicinemia non chetotica atipica","NKA atipica"],"definition":"L'encefalopatia atipica da glicina è una forma rara di encefalopatia da glicina (GE; si veda questo termine), che presenta un esordio oppure segni clinici diversi rispetto a quelli della GE neonatale o infantile."},"nl":{"name":"Atypische glycine-encefalopathie","synonyms":["Atypische NKA","Atypische non-ketotische hyperglycinemie"],"definition":"Een zeldzame vorm van glycine-encefalopathie waarvan de aanvang en de klinische manifestaties verschillen van neonatale of infantiele glycine-encefalopathie."},"pt":{"name":"Encefalopatia atípica por glicína"},"pl":{"name":"Atypowa encefalopatia glicynowa","synonyms":["Atypowa hiperglicynemia nieketonowa","Atypowa NKA"]},"cs":{"name":"Atypická glycinová encefalopatie","synonyms":["Atypická NKA","Atypická neketotická hyperglycinémie"]},"uk":{"name":"Атипова гліцинова енцефалопатія","synonyms":["Нетипова НКГ","Атипова некетотична гіпергліцинемія"],"definition":"A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy."},"zh":{"name":"非典型甘氨酸脑病","synonyms":["非典型非酮症高血糖"],"definition":"一种罕见形式的甘氨酸脑病，其起病或临床表现不同于新生儿或婴儿甘氨酸脑病。"},"tr":{"name":"Atipik glisin ensefalopatisi","synonyms":["Atipik NKA","Atipik ketotik olmayan hiperglisinemi"]}},"xrefs":[{"source":"OMIM","code":"605899","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617301","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620398","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620423","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"51420481"},{"source":"MONDO","code":"0015010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5548198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":407,"name":"Glycine encephalopathy","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"AMT","name":"aminomethyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301531[PMID]","hgnc":"473","ensembl":"ENSG00000145020","omim":"238310","loci":["3p21.31"]},{"symbol":"GCSH","name":"glycine cleavage system protein H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301531[PMID]","hgnc":"4208","ensembl":"ENSG00000140905","omim":"238330","loci":["16q23.2"]},{"symbol":"GLDC","name":"glycine decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301531[PMID]","hgnc":"4313","ensembl":"ENSG00000178445","omim":"238300","loci":["9p24.1"]},{"symbol":"SLC6A9","name":"solute carrier family 6 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27773429[PMID]","hgnc":"11056","ensembl":"ENSG00000196517","omim":"601019","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}