{"orpha":309324,"name":"Free sialic acid storage disease, infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ISSD"],"definition":null,"note":"This disease is described under Free sialic acid storage disease","url":"https://raremap.alftech.space/d/ORPHA-309324/","orphanet_url":"https://www.orpha.net/en/disease/detail/309324","names":{"fr":{"name":"Maladie de surcharge en acide sialique libre, forme infantile","synonyms":["ISSD"]},"de":{"name":"Infantile Sialinsäure-Speicherkrankheit","synonyms":["ISSD"]},"es":{"name":"Enfermedad por almacenamiento de ácido siálico libre, forma infantil","synonyms":["ISSD"]},"it":{"name":"Malattia da deposito di acido sialico libero, forma infantile","synonyms":["ISSD"]},"nl":{"name":"Vrij-siaalzuurstapelingsziekte, infantiele vorm","synonyms":["ISSD"]},"pt":{"name":"Doença de armazenamento do ácido siálico livre, forma da infância","synonyms":["ISSD"]},"pl":{"name":"Choroba spichrzania wolnego kwasu sialowego, postać niemowlęca","synonyms":["ISSD"]},"cs":{"name":"Porucha ukládání volné sialové kyseliny, infantilní forma","synonyms":["ISSD"]},"uk":{"name":"Хвороба накопичення вільної сіалової кислоти, інфантильна форма","synonyms":["ISSD"]},"zh":{"name":"婴儿型游离唾液酸贮积病","synonyms":["ISSD"]},"tr":{"name":"Serbest sialik asit depo hastalığı, infantil form","synonyms":["ISSD"]}},"xrefs":[{"source":"OMIM","code":"269920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096902","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":834,"name":"Free sialic acid storage disease","classifications":[150,156,181]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]}],"children":[],"genes":[{"symbol":"SLC17A5","name":"solute carrier family 17 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301643[PMID]","hgnc":"10933","ensembl":"ENSG00000119899","omim":"604322","loci":["6q13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}