{"orpha":834,"name":"Free sialic acid storage disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FSASD","Free sialic acid storage disorder"],"definition":"A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-834/","orphanet_url":"https://www.orpha.net/en/disease/detail/834","names":{"fr":{"name":"Maladie de surcharge en acide sialique libre","synonyms":["FSASD"],"definition":"Maladie rare de surcharge lysosomale caractérisée par un spectre de manifestations cliniques comprenant des troubles neurologiques et du développement, allant d'une forme légère (appelée maladie de Salla) à la forme la plus sévère (appelée maladie de surcharge en acide sialique libre, forme infantile)."},"de":{"name":"Sialinsäure-Speicherkrankheit","synonyms":["FSASD","Freie Sialinsäure-Speicherkrankheit","Neuraminsäurespeicherkrankheit"],"definition":"Eine seltene lysosomale Speicherkrankheit, die durch ein Spektrum klinischer Manifestationen gekennzeichnet ist, darunter neurologische und Entwicklungsstörungen mit einem Schweregrad, der von der milderen Form, auch Salla-Krankheit (SD) genannt, bis zum schwersten Phänotyp, auch infantile freie Sialinsäure-Speicherkrankheit (ISSD) genannt, reicht."},"es":{"name":"Enfermedad por depósito de ácido siálico libre","synonyms":["FSASD","Trastorno de depósito de ácido siálico libre"],"definition":"Es una enfermedad poco frecuente de depósito lisosomal caracterizada por un espectro de manifestaciones clínicas que incluyen trastornos neurológicos y del desarrollo, con una gravedad que varía desde la forma más leve, también conocida como enfermedad de Salla (SD; por sus siglas en inglés), hasta un fenotipo más grave, conocido como enfermedad infantil por depósito de ácido siálico libre (ISSD; por sus siglas en inglés)."},"it":{"name":"Malattia da deposito di acido sialico libero","synonyms":["Disturbo da deposito di acido sialico libero","FSASD"],"definition":"La malattia da deposito di acido sialico libero (SASD libero) comprende un gruppo di malattie da accumulo lisosomiale, caratterizzate da un quadro clinico che comprende malattie neurologiche e dello sviluppo di gravità variabile; il fenotipo può essere lieve, come nella malattia di Salla (SD), oppure molto grave, come nella malattia infantile da deposito di acido sialico libero (ISSD)."},"nl":{"name":"Vrij-siaalzuurstapelingsziekte","synonyms":["FSASD"],"definition":"Een zeldzame lysosomale stapelingsziekte, gekenmerkt door een spectrum van klinische manifestaties, waaronder neurologische aandoeningen en ontwikkelingsstoornissen met gradaties van ernst gaande van de mildere vorm, ook gekend als ziekte van Salla (SD), tot het meest ernstige fenotype, ook wel infantiele vrij-siaalzuurstapelingsziekte (ISSD) genoemd."},"pt":{"name":"Doença de armazenamento de ácido siálico livre","synonyms":["FSASD","Patologia do armazenamento de ácido siálico livre"],"definition":"Uma doença rara de armazenamento lisossomal caracterizada por um espectro de manifestações clínicas, incluindo distúrbios neurológicos e do desenvolvimento com uma gravidade que varia da forma mais fruste, também chamada Doença Salla (DS), ao fenótipo mais grave, também chamada doença de armazenamento de ácido siálico livre infantil (DSSI)."},"pl":{"name":"Choroba spichrzania wolnego kwasu sialowego","synonyms":["FSASD","Free sialic acid storage disorder"]},"cs":{"name":"Střádání volné sialové kyseliny","synonyms":["FSASD","Free sialic acid storage disorder"]},"uk":{"name":"Хвороба накопичення вільної сіалової кислоти","synonyms":["Порушення накопичення вільної сіалової кислоти","FSASD"],"definition":"A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD)."},"zh":{"name":"游离性唾液酸贮积病"},"tr":{"name":"Serbest siyalik asit depolama hastalığı"}},"xrefs":[{"source":"OMIM","code":"269920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604369","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"1817428569"},{"source":"MONDO","code":"0019366","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931872","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79207,"name":"Disorder of lysosomal amino acid transport","classifications":[150,156]},{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":309324,"name":"Free sialic acid storage disease, infantile form","type":"Clinical subtype"},{"orpha":309331,"name":"Intermediate severe Salla disease","type":"Clinical subtype"},{"orpha":309334,"name":"Salla disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":309324,"name":"Free sialic acid storage disease, infantile form"}},{"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"],"via":{"orpha":309331,"name":"Intermediate severe Salla disease"}},{"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"],"via":{"orpha":309334,"name":"Salla disease"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16584062[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":130.0,"area":"Worldwide","status":"Validated","source":"16584062[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}