{"orpha":118,"name":"Beta-mannosidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-mannosidase deficiency"],"definition":"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-118/","orphanet_url":"https://www.orpha.net/en/disease/detail/118","names":{"fr":{"name":"Bêta-mannosidose","synonyms":["Déficit en bêta-mannosidase lysosomale"],"definition":"La bêta-mannosidose est une maladie de surcharge lysosomale très rare caractérisé par un retard de développement de sévérité variable et une perte auditive, elle peut se manifester par une grande hétérogénéité phénotypique."},"de":{"name":"Beta-Mannosidose","definition":"Die Beta-Mannosidose ist eine sehr seltene lysosomale Speicherkrankheit, die durch Entwicklungsverzögerungen unterschiedlichen Schweregrades und Hörverlust gekennzeichnet ist, jedoch eine große phänotypische Heterogenität aufweisen kann."},"es":{"name":"Beta-manosidosis","synonyms":["Deficiencia de beta-manosidasa"],"definition":"Es una enfermedad de almacenamiento lisosomal muy poco frecuente caracterizada por un grado variable de retraso en el desarrollo y de hipoacusia, con una gran heterogeneidad fenotípica."},"it":{"name":"Beta-mannosidasi","synonyms":["Deficit di beta-mannosidasi lisosomiale"],"definition":"La beta-mannosidosi è una malattia da accumulo lisosomiale molto rara, caratterizzata da ritardo dello sviluppo di gravità variabile e perdita dell'udito; il quadro clinico è molto eterogeneo."},"nl":{"name":"Bèta-mannosidose","synonyms":["Bèta-mannosidasedeficiëntie"],"definition":"Bèta-mannosidose is een zeer zeldzame lysosomale stapelingsziekte die gekarakteriseerd wordt door ontwikkelingsachterstand met variabele gradaties van ernst en gehoorverlies, maar die zich kan manifesteren met een brede fenotypische heterogeniteit."},"pt":{"name":"Beta-manosidose","synonyms":["Deficiência de beta-manosidase","Deficiência de beta-manosidase lisossomal"],"definition":"A beta-manosidose é uma doença lisossomal de armazenamento muito rara, caracterizada por um atraso no desenvolvimento de gravidade variável e perda de audição, mas que pode manifestar uma ampla heterogeneidade fenotípica."},"pl":{"name":"Beta-mannozydoza","synonyms":["Niedobór beta-mannozydazy","Niedobór lizosomalnej beta-mannozydazy"]},"cs":{"name":"Beta-mannosidóza","synonyms":["Deficit beta-mannosidázy"]},"uk":{"name":"Бета-маннозидоз","synonyms":["Дефіцит бета-маннозидази"],"definition":"Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity."},"zh":{"name":"β-甘露糖苷贮积症","synonyms":["β-甘露糖苷酶缺乏症"]},"tr":{"name":"Beta-mannosidoz","synonyms":["Beta-mannosidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248510","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":"1578707401"},{"source":"MONDO","code":"0009562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D044905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4048196","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":79215,"name":"Oligosaccharidosis","classifications":[150,156]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MANBA","name":"mannosidase beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18980795[PMID]","hgnc":"6831","ensembl":"ENSG00000109323","omim":"609489","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Europe","status":"Validated","source":"14685153[PMID]_10480370[PMID]_20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005247","label":"Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}