{"orpha":87876,"name":"Sialidosis type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile dysmorphic sialidosis"],"definition":"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-87876/","orphanet_url":"https://www.orpha.net/en/disease/detail/87876","names":{"fr":{"name":"Sialidose type 2","synonyms":["Sialidose dysmorphique infantile"],"definition":"Maladie rare de surcharge lysosomale et forme sévère de sialidose précoce caractérisée par un phénotype de type mucopolysaccharidose progressivement sévère (faciès grossier, dysostose multiple, hépatosplénomégalie), des taches maculaires rouge cerise, ainsi qu'un retard psychomoteur et un retard de développement. La sialidose type&nbsp;2 (ST-2) présente un large spectre de gravité clinique et sa survenue peut être prénatale/congénitale, infantile ou juvénile."},"de":{"name":"Sialidose Typ 2","synonyms":["Sialidose, dysmorphe infantile"]},"es":{"name":"Sialidosis tipo 2","synonyms":["Sialidosis dismórfica infantil"],"definition":"La sialidosis tipo 2 (ST-2) es una enfermedad de depósito lisosomal poco frecuente, y una forma grave de sialidosis de inicio temprano, caracterizada por un fenotipo progresivamente grave tipo mucopolisacaridosis (cara tosca, disostosis múltiple, hepatoesplenomegalia) y manchas maculares rojo cereza así como retraso psicomotor y del desarrollo. La ST-2 muestra un amplio espectro de gravedad clínica con presentaciones prenatales/congénitas, infantiles y juveniles."},"it":{"name":"Sialidosi, tipo 2","definition":"La sialidosi tipo 2 (ST-2) è una malattia rara da accumulo lisosomiale ed è la forma più grave ad esordio precoce della sialidosi; è caratterizzata da un quadro clinico che ricorda le mucopolisaccaridosi (tratti del viso grossolani, disostosi multipla, epatosplenomegalia), macchie rosso ciliegia nella macula e ritardo psicomotorio e dello sviluppo. La ST-2 presenta un ampio spettro di gravità clinica; l'esordio può essere prenatale/congenito, infantile o giovanile."},"nl":{"name":"Sialidose type 2","synonyms":["Infantiele dysmorfische sialidose"],"definition":"Sialidose type 2 (ST-2) is een zeldzame lysosomale stapelingsziekte en de ernstige, vroeg aanvangende vorm van sialidose. De ziekte wordt gekarakteriseerd door een progressief ernstig mucopolysaccharidose-achtig fenotype (ruw gelaat, dysostosis multiplex, hepatosplenomegalie), maculaire kersrode vlekken, alsook psychomotorische achterstand en ontwikkelingsachterstand. ST-2 vertoont een breed spectrum van klinische ernst met prenatale/congenitale, infantiele en juveniele presentaties."},"pt":{"name":"Sialidose tipo 2","definition":"A sialidose tipo 2 (ST-2) é uma doença rara de armazenamento lisossómico, sendo a forma grave e de início precoce da sialidose caracterizada por um fenótipo mucopolissacaridótico progressivamente mais grave (fácies grosseiro, disostose múltipla, hepatoesplenomegalia), manchas vermelho-cereja na mácula, bem como atraso psicomotor e no desenvolvimento. A ST-2 apresenta um amplo espectro de gravidade clínica, com manifestações pré-natais/congénitas, infantis e juvenis."},"pl":{"name":"Sialidoza typu 2","synonyms":["Dziecięca sialidoza dysmorficzna"]},"cs":{"name":"Sialidosa, typ 2","synonyms":["Infantilní dysmorfická sialidosa"]},"uk":{"name":"Сіалідоз, тип 2","synonyms":["Інфантильний дисморфічний сіалідоз"],"definition":"Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."},"zh":{"name":"唾液酸沉积症2型","synonyms":["婴儿型异形唾液酸沉积症"]},"tr":{"name":"Tip 2 siyalidoz","synonyms":["İnfantil dismorfik siyalidoz"]}},"xrefs":[{"source":"OMIM","code":"256150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"256550","qualifier":"E","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":"1855856697"},{"source":"MONDO","code":"0009738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888317","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7183","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":309294,"name":"Sialidosis","classifications":[150,156,189]}],"children":[{"orpha":93400,"name":"Congenital sialidosis type 2","type":"Clinical subtype"},{"orpha":93399,"name":"Juvenile sialidosis type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"NEU1","name":"neuraminidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19568825[PMID]","hgnc":"7758","ensembl":"ENSG00000204386","omim":"608272","loci":["6p21.33"],"via":{"orpha":93399,"name":"Juvenile sialidosis type 2"}},{"symbol":"NEU1","name":"neuraminidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14695530[PMID]_19568825[PMID]","hgnc":"7758","ensembl":"ENSG00000204386","omim":"608272","loci":["6p21.33"],"via":{"orpha":93400,"name":"Congenital sialidosis type 2"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet 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":"23870618[PMID]","terms":[{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","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:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","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:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","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:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","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:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}