{"orpha":349,"name":"Fucosidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-L-fucosidase deficiency"],"definition":"A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-349/","orphanet_url":"https://www.orpha.net/en/disease/detail/349","names":{"fr":{"name":"Fucosidose","synonyms":["Déficit en alpha-L-fucosidase"],"definition":"Maladie lysosomale rare caractérisée par une accumulation tissulaire généralisée de glycolipides et d'oligosaccharides riches en fucose. Les patients présentent un large spectre de caractéristiques cliniques, telles qu'une déficience intellectuelle, un retard de développement associé à une régression psychomotrice, des anomalies osseuses, une viscéromégalie, une hyperhidrose et des anomalies dermatologiques."},"de":{"name":"Fukosidose","synonyms":["Alpha-L-Fucosidase-Mangel"],"definition":"Eine seltene lysosomale Speicherkrankheit, die durch eine generalisierte Speicherung von fukosehaltigen Glykolipiden und Oligosacchariden im Gewebe gekennzeichnet ist. Die Patienten weisen umfassende klinische Merkmale wie Intelligenzminderung, Entwicklungsverzögerung in Verbindung mit psychomotorischer Regression und Knochenanomalien, Viskeromegalie, Hyperhidrose und dermatologische Anomalien auf."},"es":{"name":"Fucosidosis","synonyms":["Deficiencia de alfa-L-fucosidasa"],"definition":"Es una enfermedad poco frecuente de depósito lisosomal caracterizada por un acúmulo tisular generalizado de glucolípidos y oligosacáridos ricos en fucosa. Los pacientes presentan un amplio rango de características clínicas, como discapacidad intelectual, retraso del desarrollo asociado a regresión psicomotora y anomalías óseas, visceromegalia, hiperhidrosis y alteraciones dermatológicas."},"it":{"name":"Fucosidosi","synonyms":["Deficit di alfa-L-fucosidasi"],"definition":"La fucosidosi è una malattia da accumulo lisosomiale molto rara. Il quadro clinico è molto variabile e di solito è caratterizzato da deterioramento neurologico, lineamenti del viso grossolani, ritardo della crescita, infezioni sinopolmonari ricorrenti, crisi epilettiche, visceromegalia, angiocheratomi e disostosi."},"nl":{"name":"Fucosidose","synonyms":["Deficiëntie van alfa-L-fucosidase"],"definition":"Een zeldzame lysosomale stapelingsziekte, gekenmerkt door wijdverspreide ophoping in weefsels van glycolipiden en oligosachariden rijk aan fucose. Patiënten vertonen een brede waaier aan klinische kenmerken, zoals intellectuele achterstand, ontwikkelingsachterstand geassocieerd met psychomotorische regressie en botafwijkingen, visceromegalie, hyperhidrose, en dermatologische afwijkingen."},"pt":{"name":"Fucosidose","synonyms":["Deficiência de alfa-L-fucosidase"],"definition":"Doença rara de armazenamento lisossomal caracterizada por acumulação generalizada de glicolipídos e oligossacarídeos ricos em fucose nos tecidos. Os doentes apresentam características clínicas amplas, como perturbação do desenvolvimento intelectual, atraso do desenvolvimento associado a regressão, anomalias ósseas, visceromegalia, hiperidrose e anomalias dermatológicas."},"pl":{"name":"Fukozydoza","synonyms":["Niedobór alfa-L-fukozydazy"]},"cs":{"name":"Fukosidóza","synonyms":["Deficit alfa-L-fukosidázy"]},"uk":{"name":"Фукозидоз","synonyms":["Дефіцит альфа-L-фукозидази"],"definition":"A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities."},"zh":{"name":"岩藻糖苷贮积病","synonyms":["α-L-岩藻糖苷酶缺乏症"]},"tr":{"name":"Fukosidoz","synonyms":["Alfa-L-fukozidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230000","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":"1470242510"},{"source":"MONDO","code":"0009254","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6473","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":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":"FUCA1","name":"alpha-L-fucosidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10094192[PMID]","hgnc":"4006","ensembl":"ENSG00000179163","omim":"612280","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":161.0,"area":"Worldwide","status":"Validated","source":"36082656[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Worldwide","status":"Validated","source":"33266441[PMID]_31886074[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"Cuba","status":"Validated","source":"27706744[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:0008430","label":"Anterior beaking of lumbar vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005595","label":"Generalized hyperkeratosis","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:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005264","label":"Abnormality of the gallbladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}