{"orpha":309288,"name":"Alpha-mannosidosis, adult form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Lysosomal alpha-D-mannosidase deficiency, adult form"],"definition":null,"note":"This disease is described under Alpha-mannosidosis","url":"https://raremap.alftech.space/d/ORPHA-309288/","orphanet_url":"https://www.orpha.net/en/disease/detail/309288","names":{"fr":{"name":"Alpha-mannosidose de l'adulte","synonyms":["Déficit en alpha-D-mannosidase lysosomale, forme adulte"]},"de":{"name":"Alpha-Mannosidose, adulte Form","synonyms":["Lysosomaler alpha-D-Mannosidase-Mangel, adulte Form"]},"es":{"name":"Alfa-manosidosis, forma adulta","synonyms":["Deficiencia de alfa-D-manosidasa lisosomal, forma adulta"]},"it":{"name":"Alfa-mannosidosi, forma dell'adulto","synonyms":["Deficit di alfa-D-mannosidasi lisosomiale, forma dell'adulto"]},"nl":{"name":"Alfa-mannosidose, volwassen vorm","synonyms":["Lysosomale alfa-D-mannosidasedeficiëntie, volwassen vorm"]},"pt":{"name":"Alfa - manosidose, forma adulta"},"pl":{"name":"Alfa-mannozydoza, postać dorosłych","synonyms":["Niedobór lizosomalnej alfa-D-mannozydazy, postać dorosłych"]},"cs":{"name":"Alfa-mannosidóza, adultní forma","synonyms":["Deficit alfa-D-mannosidózy, adultní forma"]},"uk":{"name":"Альфа-маннозидоз, доросла форма","synonyms":["Дефіцит лізосомальної альфа-D-манозидази, доросла форма"]},"zh":{"name":"成人型α-甘露糖苷贮积症","synonyms":["成人型溶酶体α-D-甘露糖苷贮积症"]},"tr":{"name":"Alfa-mannosidoz, yetişkin formu","synonyms":["Lizozomal alfa-D-mannosidaz eksikliği, erişkin form"]}},"xrefs":[{"source":"OMIM","code":"248500","qualifier":"NTBT","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":"975806188"},{"source":"MONDO","code":"0017733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":61,"name":"Alpha-mannosidosis","classifications":[150,156,181,189,199]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-04","source":"30792122[PMID]_20301570[PMID]_27814608[PMID]","terms":[{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}