{"orpha":79279,"name":"Alpha-N-acetylgalactosaminidase deficiency type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["NAGA deficiency type 1","Schindler disease type 1"],"definition":"A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79279/","orphanet_url":"https://www.orpha.net/en/disease/detail/79279","names":{"fr":{"name":"Déficit en alpha-N-acétyl-galactosaminidase type 1","synonyms":["Déficit en NAGA type 1","Maladie de Schindler type 1"],"definition":"Forme très rare et sévère de déficit en NAGA caractérisée par une dystrophie neuroaxonale infantile."},"de":{"name":"Alpha-N-Acetylgalactosaminidase-Mangel Typ 1","synonyms":["NAGA-Mangel Typ 1","Schindler-Krankheit Typ 1"],"definition":"Der Alpha-N-Acetylgalactosaminidase- (NAGA-)Mangel Typ 1 ist ein sehr seltener und schwerer Typ des NAGA-Mangels (siehe dort) und gekennzeichnet durch infantile neuroaxonale Dystrophie."},"es":{"name":"Deficiencia de alfa-N-acetilgalactosaminidasa tipo 1","synonyms":["Deficiencia de NAGA tipo 1","Enfermedad de Schindler tipo 1"],"definition":"Es un tipo de deficiencia de alfa-N-acetilgalactosaminidasa (NAGA) muy poco frecuente y grave caracterizada por una distrofia neuroaxonal infantil."},"it":{"name":"Deficit di alfa-N-acetilgalattosaminidasi, tipo 1","synonyms":["Deficit di NAGA, tipo 1","Malattia di Schindler, tipo 1"],"definition":"Il deficit di alfa-N-acetilgalattosaminidasi (NAGA) tipo 1 è una forma molto rara e grave del deficit di NAGA (si veda questo termine) caratterizzata da distrofia neuroassonale infantile."},"nl":{"name":"Deficiëntie van alfa-N-acetylgalactosaminidase type 1","synonyms":["NAGA-deficiëntie type 1","Ziekte van Schindler type 1"],"definition":"Een zeer zeldzaam en ernstig type van NAGA-deficiëntie, gekarakteriseerd door infantiele neuroaxonale dystrofie."},"pt":{"name":"Deficiência de alfa-N-acetilgalactosaminidase tipo 1"},"pl":{"name":"Niedobór alfa-N-galaktozoaminidazy typu 1","synonyms":["Choroba Schindlera typu 1","Deficyt NAGA typu 1"]},"cs":{"name":"Deficit alfa-N-acetylgalaktosaminidázy, typ 1","synonyms":["NAGA deficit, typ 1","Schindlerova nemoc, typ 1"]},"uk":{"name":"Дефіцит альфа-N-ацетилгалактозамінідази, тип 1","synonyms":["Дефіцит NAGA типу 1","Хвороба Шиндлера, тип 1"],"definition":"A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy."},"zh":{"name":"α-N-乙酰半乳糖胺酶缺陷症1型","synonyms":["Schindler病1型"]},"tr":{"name":"Alfa-N-asetilgalaktozaminidaz eksikliği tip 1","synonyms":["NAGA eksikliği tip 1","Schindler hastalığı tip 1"]}},"xrefs":[{"source":"OMIM","code":"609241","qualifier":"E","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":"1058486825"},{"source":"MONDO","code":"0012221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536631","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836544","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"116","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]}],"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":["Infancy","Neonatal"],"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:0002363","label":"Abnormal brainstem morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","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:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}