{"orpha":79280,"name":"Alpha-N-acetylgalactosaminidase deficiency type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult-onset Alpha-N-acetylgalactosaminidase deficiency","Kanzaki disease","NAGA deficiency type 2","Schindler disease type 2"],"definition":"A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79280/","orphanet_url":"https://www.orpha.net/en/disease/detail/79280","names":{"fr":{"name":"Déficit en alpha-N-acétyl-galactosaminidase de l'adulte","synonyms":["Déficit en NAGA type 2","Déficit en alpha-N-acétyl-galactosaminidase type 2","Maladie de Kanzaki","Maladie de Schindler type 2"],"definition":"Forme très rare et bénigne de déficit en NAGA chez l'adulte, caractérisée par un angiokeratoma corporis diffusum et une neuropathie sensorielle légère."},"de":{"name":"Alpha-N-Acetylgalactosaminidase-Mangel Typ 2","synonyms":["Alpha-N-Acetylgalactosaminidase-Mangel, adulter","Kanzaki-Krankheit","NAGA-Mangel Typ 2","Schindler-Krankheit Typ 2"],"definition":"Der Alpha-N-Acetylgalactosaminidase (NAGA)-Mangel Typ 2 ist ein sehr seltener milder adulter Typ des NAGA-Mangels (siehe dort) mit Angiokeratoma corporis diffusum (siehe dort) und milder sensorischer Neuropathie."},"es":{"name":"Deficiencia de alfa-N-acetilgalactosaminidasa tipo 2","synonyms":["Deficiencia de NAGA tipo 2","Deficiencia de alfa-N-acetilgalactosaminidasa de inicio en el adulto","Enfermedad de Kanzaki","Enfermedad de Schindler tipo 2"],"definition":"Es un tipo de deficiencia de alfa-N-acetilgalactosaminidasa (NAGA) del adulto, leve y muy poco frecuente, con rasgos de angioqueratoma corporal difuso y de neuropatía sensorial leve."},"it":{"name":"Deficit di alfa-N-acetilgalattosaminidasi, tipo 2","synonyms":["Deficit di NAGA, tipo 2","Deficit di alfa-N-acetilgalattosaminidasi, a esordio nell'adulto","Malattia di Kanzaki","Malattia di Schindler, tipo 2"],"definition":"Il deficit di alfa-N-acetilgalattosaminidasi (NAGA) tipo 2 è una forma dell'adulto, lieve e molto rara di deficit di NAGA (si veda questo termine) caratterizzata da segni di angiokeratoma corporis diffusum (si veda questo termine) e lieve neuropatia sensoriale."},"nl":{"name":"Deficiëntie van alfa-N-acetylgalactosaminidase type 2","synonyms":["Deficiëntie van alfa-N-acetylgalactosaminidase met aanvang in de volwassenheid","NAGA-deficiëntie type 2","Ziekte van Kanzaki","Ziekte van Schindler type 2"],"definition":"Een zeer zeldzaam, mild, volwassen type van NAGA-deficiëntie met de kenmerken van angiokeratoma corporis diffusum en milde sensorische neuropathie."},"pt":{"name":"Deficiência de alfa-N-acetilgalactosaminidase tipo 2"},"pl":{"name":"Niedobór alfa-N-galaktozoaminidazy typu 2","synonyms":["Choroba Kanzaki","Choroba Schindlera typu 2","Niedobór alfa-N-galaktozoaminidazy dorosłych","Niedobór NAGA typu 2"]},"cs":{"name":"Deficit alfa-N-acetylgalaktosaminidázy, typ 2","synonyms":["Kanzakiho choroba","Deficit NAGA, typ 2","Schindlerova nemoc, typ 2","Deficit alfa-N-acetylgalaktosaminidázy s počátkem v dospělosti"]},"uk":{"name":"Дефіцит альфа-N-ацетилгалактозамінідази, тип 2","synonyms":["Дефіцит альфа-N-ацетилгалактозамінідази у дорослих","Хвороба Канзакі","Дефіцит NAGA типу 2","Хвороба Шиндлера, тип 2"],"definition":"A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy."},"zh":{"name":"α-N-乙酰半乳糖胺酶缺陷症2型","synonyms":["成人型α-N-乙酰半乳糖胺酶缺乏"]},"tr":{"name":"Alfa-N-asetilgalaktozaminidaz eksikliği tip 2","synonyms":["Kanzaki hastalığı","NAGA eksikliği tip 2","Schindler hastalığı tip 2","Erişkin başlangıçlı Alfa-N-asetilgalaktozaminidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"609242","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":"266505438"},{"source":"MONDO","code":"0012222","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836522","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9161","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":["Adult"],"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:0001071","label":"Angiokeratoma corporis diffusum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000214","label":"Lip telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007428","label":"Telangiectasia of the oral mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Frequent (79-30%)","criteria":null}]}}