{"orpha":812,"name":"Sialidosis type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cherry-red spot-myoclonus syndrome","Lipomucopolysaccharidosis","Normomorphic sialidosis"],"definition":"Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-812/","orphanet_url":"https://www.orpha.net/en/disease/detail/812","names":{"fr":{"name":"Sialidose type 1","synonyms":["Lipomucopolysaccharidose","Sialidose normomorphique","Syndrome \"cherry-red spot-myoclonus\"","Syndrome myoclonies-taches rouge cerise"],"definition":"Une pathologie très rare de surcharge lysosomale et la forme normosomatique de la sialidose. Elle est caractérisée par des anomalies de la locomotion, une perte de vision progressive, des taches maculaires rouges-cerise bilatérales, une épilepsie myoclonique et une ataxie. La maladie se manifeste généralement entre la deuxième et la troisième décennie chez les patients."},"de":{"name":"Sialidose Typ 1","synonyms":["Kirschroter Fleck-Myoklonus-Syndrom","Lipomukopolysaccharidose","Sialidose, normomorphe"],"definition":"Die Sialidose Typ 1 (ST-1) ist eine sehr seltene lysosomale Speicherkrankheit, die durch Gangstörungen, fortschreitenden Sehverlust, beidseitige kirschrote Flecken in der Makula sowie myoklonische Epilepsie und Ataxie gekennzeichnet ist. Sie wird auch als `normomorph' bezeichnet oder 'Kirschroter Fleck-Myoklonus-Syndrom' genannt."},"es":{"name":"Sialidosis tipo 1","synonyms":["Lipomucopolisacaridosis","Sialidosis normomórfica","Síndrome de mioclono con mancha rojo cereza","Síndrome de mioclonus con mancha rojo cereza"],"definition":"La sialidosis tipo I (ST-1) es una enfermedad de depósito lisosomal muy poco frecuente, y la forma normosomática de la sialidosis, caracterizada por anomalías de la marcha, pérdida visual progresiva, manchas maculares bilaterales rojo cereza, epilepsia mioclónica y ataxia y que, por lo general, se manifiesta entre la segunda y la tercera década de vida."},"it":{"name":"Sialidosi, tipo 1","synonyms":["Lipomucopolisaccaridosi","Sialidosi normomorfa","Sindrome macchia rosso ciliegia-mioclono"],"definition":"La sialidosi tipo 1 (ST-1) è una malattia da accumulo lisosomiale molto rara e rappresenta la forma normosomatica della sialidosi. È caratterizzata da anomalie della deambulazione, perdita progressiva della vista, macchia rosso ciliegia bilaterale nella macula, epilessia mioclonica e atassia; di solito insorge nella seconda o terza decade di vita."},"nl":{"name":"Sialidose type 1","synonyms":["Kersrode vlek - myoclonus-syndroom","Lipomucopolysacharidose","Normomorfe sialidose"],"definition":"Sialidose type 1 (ST-1) is een zeer zeldzame lysosomale stapelingsziekte en de normosomatische vorm van sialidose. De ziekte wordt gekarakteriseerd door gangstoornissen, progressief functieverlies van het zicht, bilaterale maculaire kersrode vlekken en myoclonische epilepsie en ataxie, en manifesteert zich doorgaans tijdens het tweede tot derde levensdecennium."},"pt":{"name":"Sialidose tipo 1","synonyms":["Deficiência de neuraminidase","Mucolipidose tipo 1"]},"pl":{"name":"Sialidoza typu 1","synonyms":["Lipomukopolisacharydoza","Zespół skurczów mioklonicznych z wiśniowymi plamkami"]},"cs":{"name":"Sialidóza, typ I","synonyms":["Lipomukopolysacharidóza","Normomorfní sialidóza","Syndrom zahrnující třešňově červenou skvrnu a myoklonus"]},"uk":{"name":"Сіалідоз, тип 1","synonyms":["Синдром вишнево-червоної плями-міоклонусу","Ліпомукополісахаридоз","Нормоморфний сіалідоз"],"definition":"Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life."},"zh":{"name":"唾液酸贮积症1型","synonyms":["樱桃红斑肌阵挛综合征"]},"tr":{"name":"Sialidoz tip 1","synonyms":["Normomorfik siyalidoz","Lipomukopolisakkaridoz","Kiraz kırmızısı nokta miyoklonus sendromu"]}},"xrefs":[{"source":"OMIM","code":"256550","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":"1154773192"},{"source":"MONDO","code":"0019346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023806","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7639","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":309294,"name":"Sialidosis","classifications":[150,156,189]}],"children":[],"genes":[{"symbol":"NEU1","name":"neuraminidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14517945[PMID]","hgnc":"7758","ensembl":"ENSG00000204386","omim":"608272","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","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:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003461","label":"Increased urinary O-linked sialopeptides","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012061","label":"Urinary excretion of sialylated oligosaccharides","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null}]}}