{"orpha":137754,"name":"Aminoacylase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACY1D","N-acyl-L-amino acid amidohydrolase deficiency","N-acyl-aliphatic-L-amino acid amidohydrolase deficiency"],"definition":"A rare inborn error of metabolism (organic aciduria) characterized by elevated urinary levels of numerous N-acetylated amino acids. A causal relationship with a specific clinical phenotype is uncertain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137754/","orphanet_url":"https://www.orpha.net/en/disease/detail/137754","names":{"fr":{"name":"Déficit en aminoacylase 1","synonyms":["ACY1D","Déficit en N-acyl-L-amino acide amidohydrolase","Déficit en N-acyl-aliphatic-L-amino acid amidohydrolase"],"definition":"Erreur innée du métabolisme rare (acidurie organique) caractérisée par des taux urinaires élevés de nombreux acides aminés N-acétylés. La relation de cause à effet avec un phénotype clinique spécifique est incertaine."},"de":{"name":"Aminoacylase 1-Mangel","synonyms":["ACY1D","Aminoacylase 1-Defizienz","N-Acyl-L-Aminosäure Amidohydrolase-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung (organische Azidurie), die durch erhöhte Urinwerte zahlreicher N-acetylierter Aminosäuren gekennzeichnet ist. Ein kausaler Zusammenhang mit einem spezifischen klinischen Phänotyp ist ungewiss."},"es":{"name":"Deficiencia de aminoacilasa 1","synonyms":["ACY1D","Deficiencia de N-acil-L-aminoácido amidohidrolasa","Deficiencia de N-acil-alifático-L-aminoácido amidohidrolasa"],"definition":"Es un error congénito del metabolismo (aciduria orgánica) poco frecuente caracterizado por niveles elevados en la orina de numerosos aminoácidos N-acetilados. La relación causal con un fenotipo clínico específico es incierta."},"it":{"name":"Deficit di aminoacilasi 1","synonyms":["ACY1D","Deficit di N-acil-alifatico-L-aminoacido amidoidrolasi","Deficit di N-acil-L-aminoacido-amidoidrolasi"]},"nl":{"name":"Deficiëntie van aminoacylase 1","synonyms":["ACY1D","Deficiëntie van N-acyl-L-aminozuur-amidohydrolase","Deficiëntie van N-acyl-alifatisch-L-aminozuur-amidohydrolase"],"definition":"Een zeldzame aangeboren stofwisselingsziekte (organische acidurie), gekenmerkt door verhoogde gehaltes van talloze N-geacetyleerde aminozuren in de urine. Een causale relatie met een specifiek klinisch fenotype is onzeker."},"pt":{"name":"Deficiência de aminoaciclase 1","synonyms":["ACY1D","Deficiência de N-acil-L-aminoácido amidohidrolase","Deficiência de N-acil-alifático-L-aminoácido amidohidrolase"],"definition":"Erro inato do metabolismo (acidúria orgânica) caracterizado por níveis urinários elevados de numerosos aminoácidos N-acetilados. Uma relação causal com um fenótipo clínico específico é incerta."},"pl":{"name":"Choroby neurologiczne związane z niedoborem aminoacylazy 1","synonyms":["ACY1D","Niedobór amidohydrolazy N-acylo-L-aminokwasów"]},"cs":{"name":"Neurologické stavy spojené s deficitem aminoacylázy 1","synonyms":["ACY1D","Deficit aminohydrolázy N-acyl-L-aminokyseliny"]},"uk":{"name":"Дефіцит аміноацилази 1","synonyms":["ACY1D","Дефіцит амідогідролази N-ацил-L-амінокислот"],"definition":"An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms."},"zh":{"name":"氨基酰化酶1缺陷相关神经系统疾病","synonyms":["N-酰基-L-氨基酸酰胺水解酶缺陷"],"definition":"一种先天性代谢缺陷，其特征是尿N-乙酰氨基酸排泄和神经症状。"},"tr":{"name":"Aminoasilaz 1 eksikliği -ilişkili nörolojik durumlar","synonyms":["ACY1D","N-açil-L-amino asit amidohidrolaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"609924","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"620694696"},{"source":"MONDO","code":"0012368","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538246","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835922","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9741","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":308448,"name":"Aminoacylase deficiency","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACY1","name":"aminoacylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16465618[PMID]","hgnc":"177","ensembl":"ENSG00000243989","omim":"104620","loci":["3p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29653693[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"29653693[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-09-24","source":"17562838[PMID]_16465618[PMID]_24117009[PMID]","terms":[{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very rare (<4-1%)","criteria":null}]}}