{"orpha":79281,"name":"Alpha-N-acetylgalactosaminidase deficiency type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["NAGA deficiency type 3","Schindler disease type 3"],"definition":"A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79281/","orphanet_url":"https://www.orpha.net/en/disease/detail/79281","names":{"fr":{"name":"Déficit en alpha-N-acétyl-galactosaminidase type 3","synonyms":["Déficit en NAGA type 3","Maladie de Schindler type 3"],"definition":"Type rare et cliniquement hétérogène de déficit en NAGA caractérisé par des troubles du développement, des signes neurologiques et psychiatriques, apparaissant à un âge intermédiaire."},"de":{"name":"Alpha-N-Acetylgalactosaminidase-Mangel Typ 3","synonyms":["NAGA-Mangel Typ 3","Schindler-Krankheit Typ 3"],"definition":"Der Alpha-N-Acetylgalactosaminidase- (NAGA-)Mangel Typ 3 ist ein seltener, klinisch heterogener Typ des NAGA-Mangels (siehe dort) mit entwicklungsmäßigen, neurologischen und psychiatrischen Symptomen, die sich im mittleren Alter zeigen."},"es":{"name":"Deficiencia de alfa-N-acetilgalactosaminidasa tipo 3","synonyms":["Deficiencia de NAGA tipo 3","Enfermedad de Schindler tipo 3"],"definition":"Es un tipo clínicamente heterogéneo y poco frecuente de deficiencia de alfa-N-acetilgalactosaminidasa (NAGA), con manifestaciones neurológicas, psiquíatricas y del desarrollo que se presentan a una edad intermedia."},"it":{"name":"Deficit di alfa-N-acetilgalattosaminidasi, tipo 3","synonyms":["Deficit di NAGA, tipo 3","Malattia di Schindler, tipo 3"],"definition":"Il deficit di alfa-N-acetilgalattosaminidasi (NAGA) tipo 3 è una forma rara, clinicamente eterogenea, del deficit di NAGA (si veda questo termine), caratterizzata da disturbi dello sviluppo, segni neurologici e psichiatrici, ad esordio ad un'età intermedia."},"nl":{"name":"Deficiëntie van alfa-N-acetylgalactosaminidase type 3","synonyms":["NAGA-deficiëntie type 3","Ziekte van Schindler type 3"],"definition":"Een zeldzaam, klinisch heterogeen type van NAGA-deficiëntie met ontwikkelingsstoornissen, en neurologische en psychiatrische manifestaties die zich voordoen op middelbare leeftijd."},"pt":{"name":"Deficiência de alfa-N-acetilgalactosaminidase tipo 3"},"pl":{"name":"Niedobór alfa-N-galaktozoaminidazy typu 3","synonyms":["Choroba Schindlera typu 3","Niedobór NAGA typu 3"]},"cs":{"name":"Deficit alfa-N-acetylgalaktosaminidázy, typ 3","synonyms":["Deficit NAGA, typ 3","Schindlerova nemoc, typ 3"]},"uk":{"name":"Дефіцит альфа-N-ацетилгалактозамінідази, тип 3","synonyms":["Дефіцит NAGA типу 3","Хвороба Шиндлера, тип 3"],"definition":"A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age."},"zh":{"name":"α-N-乙酰半乳糖胺酶缺陷症3型","synonyms":["Schindler病3型"]},"tr":{"name":"Alfa-N-asetilgalaktozaminidaz eksikliği tip 3","synonyms":["NAGA eksikliği tip 3","Schindler hastalığı tip 3"]}},"xrefs":[{"source":"OMIM","code":"609241","qualifier":"NTBT","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":"1639349183"},{"source":"MONDO","code":"0019264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437471","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":3137,"name":"Alpha-N-acetylgalactosaminidase deficiency","classifications":[150,156,181,189]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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:0000717","label":"Autism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null}]}}