{"orpha":93400,"name":"Congenital sialidosis type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Sialidosis type 2","url":"https://raremap.alftech.space/d/ORPHA-93400/","orphanet_url":"https://www.orpha.net/en/disease/detail/93400","names":{"fr":{"name":"Sialidose type 2 congénitale"},"de":{"name":"Sialidose Typ 2, kongenitale Form"},"es":{"name":"Sialidosis tipo 2, forma congénita"},"it":{"name":"Sialidosi tipo 2, forma congenita"},"nl":{"name":"Sialidose type 2, congenitale vorm","synonyms":["Aangeboren sialidose type 2","Congenitale sialidose type 2"]},"pt":{"name":"Sialidose tipo 2, forma congénita"},"pl":{"name":"Sialidoza wrodzona typu 2"},"cs":{"name":"Vrozená sialidóza, typ 2"},"uk":{"name":"Вроджений сіалідоз, тип 2"},"zh":{"name":"先天性唾液酸沉积症2型"},"tr":{"name":"Doğumsal sialidoz tip 2"}},"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":"1994237121"},{"source":"MONDO","code":"0019682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681599","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":87876,"name":"Sialidosis type 2","classifications":[147,150,156,181,188,189,199]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-09","source":"29693572[PMID]","terms":[{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010729","label":"Cherry red spot of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030506","label":"Yellow/white lesions of the retina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Very rare (<4-1%)","criteria":null}]}}