{"orpha":3137,"name":"Alpha-N-acetylgalactosaminidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NAGA deficiency","Schindler disease"],"definition":"A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3137/","orphanet_url":"https://www.orpha.net/en/disease/detail/3137","names":{"fr":{"name":"Déficit en alpha-N-acétylgalactosaminidase","synonyms":["Déficit en NAGA","Maladie de Schindler"],"definition":"Le déficit en alpha-N-acétylgalactosaminidase (NAGA) est une maladie de surcharge lysosomale très rare, cliniquement et pathologiquement hétérogène, et caractérisée par une activité NAGA déficiente."},"de":{"name":"Alpha-N-Acetylgalactosaminidase-Mangel","synonyms":["NAGA-Mangel","Schindler-Krankheit"],"definition":"Der Alpha-N-acetylgalactosaminidase- (NAGA-)Mangel ist eine sehr seltene lysosomale Speichererkrankung. Ursache der klinisch und pathologisch heterogenen Erkrankung ist das Fehlen der NAGA-Aktivität."},"es":{"name":"Deficiencia de N-acetil-alfa-D-galactosaminidasa","synonyms":["Deficiencia de NAGA","Enfermedad de Schindler"],"definition":"Es una enfermedad de depósito lisosomal muy poco frecuente, clínica y patológicamente heterogénea, que se caracteriza por un déficit en la actividad de la alfa-N-acetilgalactosaminidasa (NAGA)."},"it":{"name":"Deficit di alfa-N-acetilgalattosaminidasi","synonyms":["Deficit di NAGA","Malattia di Schindler"],"definition":"Il deficit di alfa-N-acetilgalattosaminidasi (NAGA) è una malattia molto rara da accumulo lisosomiale, clinicamente e patologicamente eterogenea, caratterizzata da deficit dell'attività della NAGA."},"nl":{"name":"Deficiëntie van alfa-N-acetylgalactosaminidase","synonyms":["NAGA-deficiëntie","Ziekte van Schindler"],"definition":"Een zeer zeldzame lysosomale stapelingsziekte die klinisch en pathologisch heterogeen is en gekarakteriseerd wordt door deficiënte NAGA-activiteit."},"pt":{"name":"Deficiência de N-acetil-alfa-D-galactosaminidase","synonyms":["Deficiência de NAGA"]},"pl":{"name":"Niedobór alfa-N-acetylgalaktozoaminidazy","synonyms":["Choroba Schindlera","Niedobór NAGA"]},"cs":{"name":"Deficit alfa-N-acetylgalaktosaminidázy","synonyms":["NAGA deficit","Schindlerova nemoc"]},"uk":{"name":"Дефіцит альфа-N-ацетилгалактозамінідази","synonyms":["Дефіцит NAGA","Хвороба Шиндлера"],"definition":"A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity."},"zh":{"name":"α-N-乙酰半乳糖胺酶缺乏症","synonyms":["Schindler病"]},"tr":{"name":"Alfa-N-asetilgalaktozaminidaz eksikliği","synonyms":["NAGA eksikliği","Schindler hastalığı"]}},"xrefs":[{"source":"OMIM","code":"609241","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609242","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1647881428"},{"source":"MONDO","code":"0017779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79215,"name":"Oligosaccharidosis","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[{"orpha":79279,"name":"Alpha-N-acetylgalactosaminidase deficiency type 1","type":"Clinical subtype"},{"orpha":79280,"name":"Alpha-N-acetylgalactosaminidase deficiency type 2","type":"Clinical subtype"},{"orpha":79281,"name":"Alpha-N-acetylgalactosaminidase deficiency type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"NAGA","name":"alpha-N-acetylgalactosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7631","ensembl":"ENSG00000198951","omim":"104170","loci":["22q13.2"],"via":{"orpha":79279,"name":"Alpha-N-acetylgalactosaminidase deficiency type 1"}},{"symbol":"NAGA","name":"alpha-N-acetylgalactosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7631","ensembl":"ENSG00000198951","omim":"104170","loci":["22q13.2"],"via":{"orpha":79280,"name":"Alpha-N-acetylgalactosaminidase deficiency type 2"}},{"symbol":"NAGA","name":"alpha-N-acetylgalactosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7631","ensembl":"ENSG00000198951","omim":"104170","loci":["22q13.2"],"via":{"orpha":79281,"name":"Alpha-N-acetylgalactosaminidase deficiency type 3"}}],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}