{"orpha":93,"name":"Aspartylglucosaminuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aspartylglucosaminidase deficiency"],"definition":"A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93/","orphanet_url":"https://www.orpha.net/en/disease/detail/93","names":{"fr":{"name":"Aspartylglucosaminurie","synonyms":["Déficit en aspartylglucosaminidase"],"definition":"Oligosaccharidose rare caractérisée par une dysmorphie faciale, une déficience intellectuelle progressive et une détérioration psychomotrice, due à l'accumulation de glycoasparagines dans les tissus et le liquide biologique."},"de":{"name":"Aspartylglukosaminurie","synonyms":["Aspartyl-Glukosaminidase-Mangel"],"definition":"Eine seltene Oligosaccharidose, die durch Gesichtsdysmorphien, fortschreitende Intelligenzminderung und psychomotorische Verschlechterung aufgrund der Anhäufung von Glykoasparaginen in Geweben und Körperflüssigkeiten gekennzeichnet ist."},"es":{"name":"Aspartilglucosaminuria","synonyms":["Deficiencia de aspartilglucosaminidasa"],"definition":"Es una oligosacaridosis poco frecuente caracterizada por dismorfia facial, discapacidad intelectual progresiva y deterioro psicomotor debido al acúmulo de glucoasparaginas en los tejidos y fluidos corporales."},"it":{"name":"Aspartilglucosaminuria","synonyms":["Deficit di aspartilglucosaminidasi"]},"nl":{"name":"Aspartylglucosaminurie","synonyms":["AGA-deficiëntie","AGU","Aspartylglucosaminidasedeficiëntie"],"definition":"Een zeldzame oligosacharidose, gekenmerkt door faciale dysmorfie, progressieve intellectuele achterstand en psychomotorische achteruitgang door accumulatie van glycoasparagines in weefsels en lichaamsvloeistoffen."},"pt":{"name":"Aspartilglicosaminúria","synonyms":["Deficiência de aspartilglucosaminidase"],"definition":"Oligossacaridose rara caracterizada por dismorfias faciais, perturbação do desenvolvimento intelectual progressiva e regressão do desenvolvimento devido à acumulação de glicoasparaginas nos tecidos e fluidos corporais."},"pl":{"name":"Aspartyloglikozoaminuria","synonyms":["Niedobór aspartyloglukozoaminidazy"]},"cs":{"name":"Aspartylglukosaminourie","synonyms":["Deficit aspartylglukosaminidázy"]},"uk":{"name":"Аспартилглюкозамінурія","synonyms":["Дефіцит аспартаглюкозамінідази"],"definition":"A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids."},"zh":{"name":"天冬氨酰葡萄糖胺尿症","synonyms":["天冬氨酰葡糖胺酶缺乏症"]},"tr":{"name":"Aspartilglukozaminüri","synonyms":["Aspartilglukozaminidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"208400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2143470200"},{"source":"MONDO","code":"0008830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268225","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5854","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068220","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":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"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]}],"children":[],"genes":[{"symbol":"AGA","name":"aspartylglucosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11309371[PMID]","hgnc":"318","ensembl":"ENSG00000038002","omim":"613228","loci":["4q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.35,"area":"Finland","status":"Validated","source":"27906067[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012068","label":"Aspartylglucosaminuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008430","label":"Anterior beaking of lumbar vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Occasional (29-5%)","criteria":null}]}}