{"orpha":61,"name":"Alpha-mannosidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lysosomal alpha-D-mannosidase deficiency"],"definition":"An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-61/","orphanet_url":"https://www.orpha.net/en/disease/detail/61","names":{"fr":{"name":"Alpha-mannosidose","synonyms":["Déficit en alpha-D-mannosidase lysosomale"],"definition":"L'alpha-mannosidose est une maladie héréditaire de surcharge lysosomale caractérisée par une immunodéficience, des anomalies faciales et squelettiques, une déficience auditive et un déficit intellectuel."},"de":{"name":"Alpha-Mannosidose","synonyms":["Alpha-D Mannosidase-Mangel, lyosomaler"],"definition":"Eine vererbte lysosomale Speicherkrankheit, die durch Immunschwäche, Gesichts- und Skelettanomalien, Hörstörungen und intellektuelle Defizite gekennzeichnet ist."},"es":{"name":"Alfa-manosidosis","synonyms":["Deficiencia de alfa-D-manosidasa lisosomal"],"definition":"Es un trastorno congénito de almacenamiento lisosomal caracterizado por deficiencia inmunológica, anomalías faciales y esqueléticas, afectación auditiva y discapacidad intelectual."},"it":{"name":"Alfa-mannosidosi","synonyms":["Deficit di alfa-D-mannosidosi lisosomiale"]},"nl":{"name":"Alfa-mannosidose","synonyms":["Lysosomale alfa-D-mannosidasedeficiëntie"],"definition":"Een erfelijke lysosomale stapelingsziekte, gekarakteriseerd door immuundeficiëntie, afwijkingen van aangezicht en skelet, slechthorendheid, en intellectuele achterstand."},"pt":{"name":"Alfa-manosidose","synonyms":["Deficiência de alfa-D-manosidase lisossomal"],"definition":"Doença lisossomal de armazenamento hereditária caracterizada por imunodeficiência, anomalias faciais e esqueléticas, perda auditiva e perturbação do desenvolvimento intelectual."},"pl":{"name":"Alfa-mannozydoza","synonyms":["Niedobór lizosomalnej alfa-D mannozydazy"]},"cs":{"name":"Alfa-mannosidóza","synonyms":["Deficit lysosomální alfa-D-mannosidázy"]},"uk":{"name":"Альфа-маннозидоз","synonyms":["Дефіцит лізосомальної альфа-D-манозидази"],"definition":"An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit."},"zh":{"name":"α-甘露糖苷贮积症","synonyms":["溶酶体α-D-甘露糖苷酶缺乏症"]},"tr":{"name":"Alfa-mannosidoz","synonyms":["Lizozomal alfa-D-mannosidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248500","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":"1944256516"},{"source":"MONDO","code":"0009561","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008363","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024748","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6968","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"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":[{"orpha":309288,"name":"Alpha-mannosidosis, adult form","type":"Clinical subtype"},{"orpha":309282,"name":"Alpha-mannosidosis, infantile form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MAN2B1","name":"mannosidase alpha class 2B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19958498[PMID]","hgnc":"6826","ensembl":"ENSG00000104774","omim":"609458","loci":["19p13.13"],"via":{"orpha":309282,"name":"Alpha-mannosidosis, infantile form"}},{"symbol":"MAN2B1","name":"mannosidase alpha class 2B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19958498[PMID]","hgnc":"6826","ensembl":"ENSG00000104774","omim":"609458","loci":["19p13.13"],"via":{"orpha":309288,"name":"Alpha-mannosidosis, adult form"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency 2005[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Norway","status":"Not yet validated","source":"7900112[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"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":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Sweden","status":"Validated","source":"25274184[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"23760316[PMID]_12873889[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","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:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008821","label":"Hypoplastic inferior ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival 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(79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011369","label":"Mongolian blue spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional 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