{"orpha":351,"name":"Galactosialidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Goldberg syndrome","Neuraminidase deficiency with beta-galactosidase deficiency"],"definition":"Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-351/","orphanet_url":"https://www.orpha.net/en/disease/detail/351","names":{"fr":{"name":"Galactosialidose","synonyms":["Déficits en neuraminidase et bêta-galactosidase","Syndrome de Goldberg"],"definition":"Maladie lysosomale se manifestant par des traits faciaux grossiers, une tache rouge cerise de la macula et une dysostose. Le tableau clinique peut être hétérogène, allant d'une forme infantile sévère, d'apparition précoce et rapidement progressive à une forme juvénile/adulte d'apparition tardive et lentement progressive."},"de":{"name":"Galaktosialidose","synonyms":["Goldberg-Syndrom","Neuraminidase-beta-Galaktosidase-Mangel"],"definition":"Galaktosialidose ist eine lysosomale Speicherkrankheit, die durch grobe Gesichtszüge, einen makulären ''kirschroten Fleck'' und Dysostosis multiplex gekennzeichnet ist. Die klinische Präsentation kann heterogen sein und reicht von einer schweren, früh einsetzenden, schnell progredienten infantilen Form bis hin zu einer spät einsetzenden, langsam progredienten juvenilen/adulten Form."},"es":{"name":"Galactosialidosis","synonyms":["Deficiencia de neuraminidasa beta-galactosidasa","Síndrome de Goldberg"],"definition":"La galactosialidosis es una enfermedad de almacenamiento lisosomal caracterizada por rasgos faciales toscos, mancha macular ''rojo cereza\" y disostosis múltiple. La presentación clínica puede ser heterogénea, variando desde una forma grave, de inicio temprano en la lactancia y progresión rápida hasta una forma juvenil / adulta de inicio tardío lentamente progresiva."},"it":{"name":"Galattosialidosi","synonyms":["Deficit di neuraminidasi beta-galattosidasi","Deficit di neuraminidasi e beta-galattosidasi","Sindrome di Goldberg"]},"nl":{"name":"Galactosialidose","synonyms":["Neuraminidasedeficiëntie met bèta-galactosidasedeficiëntie","Syndroom van Goldberg"],"definition":"Een lysosomale stapelingsziekte, gekarakteriseerd door grove gelaatstrekken, kersrode macula, en dysostosis multiplex. De klinische presentatie kan heterogeen zijn, gaande van een ernstige, vroeg optredende, snel progressieve infantiele vorm tot een laat optredende, traag progressieve juveniele/volwassen vorm."},"pt":{"name":"Galactosialidose","synonyms":["Deficiência de neuraminidase beta-galactosidase","Síndrome Goldberg"]},"pl":{"name":"Galaktosialidoza","synonyms":["Niedobór neuraminidazy z niedoborem beta-galaktozydazy","Zespół Goldberga"]},"cs":{"name":"Galaktosialidóza","synonyms":["Kombinovaný deficit neuraminidázy a beta-galaktosidázy","Goldbergův syndrom"]},"uk":{"name":"Галактосіалідоз","synonyms":["Синдром Гольдберга","Дефіцит нейрамінідази з дефіцитом бета-галактозидази"],"definition":"Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form."},"zh":{"name":"半乳糖唾液酸苷贮积症","synonyms":["神经氨酸酶缺乏伴β-半乳糖苷酶缺乏"]},"tr":{"name":"Galaktosiyalidoz","synonyms":["Goldberg sendromu","Beta-galaktosidaz eksikliği ile seyreden nöraminidaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"256540","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":"1838660035"},{"source":"MONDO","code":"0009737","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536411","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083306","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"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":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CTSA","name":"cathepsin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9251","ensembl":"ENSG00000064601","omim":"613111","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"23915561[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","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:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}