{"orpha":309294,"name":"Sialidosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-309294/","orphanet_url":"https://www.orpha.net/en/disease/detail/309294","names":{"fr":{"name":"Sialidose","definition":"La sialidose est une anomalie du stockage lysosomal faisant partie du groupe des oligosaccharidoses ou des glycoprotéinoses, et possédant un large spectre clinique. Elle est divisée en deux sous-types cliniques principaux : la sialidose type I est la forme la plus légère de la maladie, non dysmorphique, caractérisée par des troubles de la marche, une perte visuelle progressive, des taches maculaires bilatérales de couleur rouge cerise et une myoclonie qui se manifeste à l'adolescence et à l'âge adulte (deuxième ou troisième décennie). La sialidose type II est la forme la plus sévère, apparaissant précocement. Elle se caractérise par un phénotype de type mucopolysaccharidose sévère et progressif, avec un visage grossier, une viscéromégalie, une maladie lysosomale avec atteinte osseuse, et un retard de développement. Les taches maculaires bilatérales rouge cerise sont aussi présentes. La sialidose type II est subdivisée en présentations congénitale/prénatale (avec anasarque foeto-placentaire), infantile et juvénile."},"de":{"name":"Sialidose"},"es":{"name":"Sialidosis","definition":"Es una enfermedad de depósito lisosomal, perteneciente al grupo de oligosacaridosis o glicoproteinosis, con un amplio espectro clínico que se divide en dos subtipos clínicos principales: sialidosis tipo I, la forma más leve y no dismórfica de la enfermedad, caracterizada por anomalías de la marcha, pérdida visual progresiva, manchas maculares bilaterales rojo cereza y mioclonías, que se presentan en la adolescencia o en la edad adulta (segunda o tercera década de la vida); y sialidosis tipo II, la forma más grave, de inicio temprano, caracterizada por un fenotipo similar a una mucopolisacaridosis progresiva y grave con facies tosca, visceromegalia, disostosis múltiple y retraso en el desarrollo. También están presentes manchas maculares rojo cereza bilaterales. La sialidosis tipo II se ha subdividido en presentaciones congénitas (con hidropesía fetal), infantiles y juveniles."},"it":{"name":"Sialidosi","definition":"La sialidosi è una malattia da accumulo lisosomiale che fa parte del gruppo delle oligosaccaridosi o glicoproteinosi. Il quadro clinico è variabile ed comprende due principali forme cliniche: la sialidosi tipo I è la forma più lieve, senza dismorfismi facciali, con anomalie della deambulazione, perdita progressiva della vista, macchia rosso ciliegia bilaterale nella macula, mioclono ed esordio nell'adolescenza o nell'età adulta (seconda o terza decade); la sialidosi tipo II è la forma più grave, ad esordio precoce, caratterizzata da un quadro clinico che ricorda le mucopolisaccaridosi, ha una evoluzione progressiva e grave, è si associa a tratti del viso grossolani, visceromegalia, disostosi multipla e ritardo dello sviluppo. Sono anche presenti bilateralmente macchie rosso ciliegia nella maculai. La sialidosi tipo II è stata ulteriormente sottoclassificata nelle forme ad esordio congenito/prenatale (con idrope fetale), infantile e giovanile."},"nl":{"name":"Sialidose","definition":"Sialidose is een lysosomale stapelingsziekte die behoort tot de groep van de oligosaccharidosen of glycoproteïnosen, en die een breed klinisch spectrum vertoont dat is onderverdeeld in twee voorname klinische subtypes: sialidose type 1 (zie deze term), de mildere, niet-dysmorfe vorm van de ziekte gekarakteriseerd door gangstoornissen, progressief functieverlies van het zicht, bilaterale maculaire kersrode vlekken en myoclonus, en aanvang in de adolescentie of volwassenheid (tweede of derde levensdecennium); en sialidose type 2 (zie deze term), de ernstigere, vroeg aanvangende vorm gekarakteriseerd door een progressief en ernstig mucopolysaccharidose-achtig fenotype met een ruw gelaat, visceromegalie, dysostosis multiplex, en ontwikkelingsachterstand. Bilaterale maculaire kersrode vlekken zijn ook aanwezig. Sialidose type 2 wordt verder onderverdeeld in congenitale (met hydrops foetalis), infantiele en juveniele presentaties."},"pt":{"name":"Sialidose"},"pl":{"name":"Sialidoza"},"cs":{"name":"Sialidóza"},"uk":{"name":"Сіалідоз","definition":"Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations."},"zh":{"name":"唾液酸沉积病","definition":"唾液酸沉积症是一种溶酶体储存性疾病，属于低聚糖醛糖或糖蛋白沉积症，临床范围广泛，可分为两种主要的临床亚型：Ⅰ型涎腺腺病（见本术语），该病较轻，不变形，以步态异常、进行性视力丧失、双侧黄斑樱桃红点和肌阵挛为特征，出现在青春期或成年期（二十或三十岁）；唾液腺样变病II型（见本术语）是一种更严重、早期发病的形式，其特征是进行性和严重的粘多糖病样表型，面容粗糙、内脏肿大、多发性发育不良和发育迟缓，也可表现为双侧黄斑樱桃红点。II型唾液酸沉积症进一步分为先天性（胎儿水肿）、婴儿和青少年型。"},"tr":{"name":"Siyalidoz"}},"xrefs":[{"source":"ICD-11","code":"5C56.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1180347697"},{"source":"MONDO","code":"0017734","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268226","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058800","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79215,"name":"Oligosaccharidosis","classifications":[150,156]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[{"orpha":812,"name":"Sialidosis type 1","type":"Disease"},{"orpha":87876,"name":"Sialidosis type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"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 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}