{"orpha":206583,"name":"Adult polyglucosan body disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["APBD"],"definition":"A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206583/","orphanet_url":"https://www.orpha.net/en/disease/detail/206583","names":{"fr":{"name":"Maladie des corps de polyglucosane de l'adulte","synonyms":["APBD"],"definition":"Maladie de stockage du glycogène chez l'adulte caractérisée par un dysfonctionnement progressif des motoneurones supérieurs et inférieurs, une vessie neurogène évolutive et des troubles cognitifs pouvant conduire à la démence."},"de":{"name":"Polyglukosankörper-Krankheit, adulte","synonyms":["APBD"]},"es":{"name":"Adult polyglucosan body disease","synonyms":["ECPA"],"definition":"Es una enfermedad por almacenamiento de glucógeno del adulto que se caracteriza por la disfunción progresiva de la motoneurona superior e inferior, vejiga neurógena progresiva y dificultades cognitivas que pueden conducir a la demencia."},"it":{"name":"Malattia da corpi di poliglucosano dell'adulto","synonyms":["APBD"]},"nl":{"name":"Volwassen ziekte met polyglucosanlichaampjes","synonyms":["APBD"],"definition":"Een glycogeenstapelingsziekte bij volwassenen, gekenmerkt door progressieve disfunctie van hogere en lagere motorische neuronen, progressieve neurogene blaas, en cognitieve stoornissen die kunnen leiden tot dementie."},"pt":{"name":"Doença de corpos de poliglucosano do adulto"},"pl":{"name":"Choroba ciał skrobiowatych u dorosłych","synonyms":["APBD"]},"cs":{"name":"Adultní nemoc s polyglukosanovými tělísky","synonyms":["APBD"]},"uk":{"name":"Хвороба з поліглюкозановими тільцями у дорослих","synonyms":["APBD"],"definition":"A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia."},"zh":{"name":"成人葡聚糖多聚体神经病变","synonyms":["APBD"],"definition":"成人葡聚糖多聚体病是一种成人糖原贮积症，其主要临床表现为进行性运动神经元功能障碍，进行性神经源性膀胱和认知障碍，可导致痴呆。"},"tr":{"name":"Yetişkin poliglukozan vücut hastalığı","synonyms":["APBD"]}},"xrefs":[{"source":"OMIM","code":"263570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009897","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564878","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849722","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"108","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077946","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":367,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency","classifications":[146,150,156,181,183,233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GBE1","name":"1,4-alpha-glucan branching enzyme 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10762170[PMID]","hgnc":"4180","ensembl":"ENSG00000114480","omim":"607839","loci":["3p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null}]}}