{"orpha":585,"name":"Multiple sulfatase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Austin disease","MSD","Mucosulfatidosis"],"definition":"A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-585/","orphanet_url":"https://www.orpha.net/en/disease/detail/585","names":{"fr":{"name":"Déficit multiple en sulfatases","synonyms":["DMS","MSD","Maladie d'Austin","Mucosulfatidose"],"definition":"Maladie lysosomale rare caractérisée par un phénotype clinique associant les manifestations de différents déficits en sulfatases (lysosomales ou non). Les manifestations cliniques peuvent comprendre un retard de développement, une détérioration neurologique progressive, une hydrocéphalie, une hypotonie, des traits de visage grossiers, une rétinopathie, des anomalies squelettiques, une hépatomégalie et une ichtyose de degré variable. Le déficit multiple en sulfatases (DMS) comprend des formes sévères à atténuées, historiquement classées comme néonatale (forme la plus sévère), infantile (forme la plus courante) ou juvénile (forme la plus rare)."},"de":{"name":"Sulfatase-Mangel, multipler","synonyms":["Austin-Syndrom","MSD","Mukosulfatidose"],"definition":"Eine seltene lysosomale Speicherkrankheit, die einen klinischen Phänotyp aufweist, der die Merkmale verschiedener Sulfatasemängel (ob lysosomal oder nicht) kombiniert. Zu den klinischen Manifestationen können Entwicklungsverzögerung, fortschreitende neurologische Beeinträchtigung, Hydrozephalus, Hypotonie, grobe Gesichtszüge, Retinopathie, Skelettanomalien, Hepatomegalie und Ichthyose in unterschiedlichem Ausmaß gehören. Der multiple Sulfatasemangel (MSD) umfasst schwere bis abgeschwächte Formen, die historisch als neonatale (schwerste Form), infantile (häufigste Form) oder juvenile (seltenste Form) klassifiziert werden."},"es":{"name":"Deficiencia múltiple de sulfatasas","synonyms":["DMS","Enfermedad de Austin","Mucosulfatidosis"],"definition":"Es una enfermedad lisosomal poco frecuente caracterizada por un fenotipo clínico que combina características de diferentes deficiencias de sulfatasa (ya sean lisosomales o no). Las manifestaciones clínicas pueden incluir retraso del desarrollo, deterioro neurológico progresivo, hidrocefalia, hipotonía, rasgos faciales toscos, retinopatía, anomalías esqueléticas, hepatomegalia e ictiosis en un grado variable. La deficiencia múltiple de sulfatasas (DMS) comprende formas graves a atenuadas clasificadas históricamente como de inicio neonatal (forma más grave), del lactante (forma más común) o juvenil (forma menos frecuente)."},"it":{"name":"Deficit multiplo di solfatasi","synonyms":["MSD","Malattia di Austin","Mucosolfatidosi"]},"nl":{"name":"Multipele sulfatasedeficiëntie","synonyms":["MSD","Meervoudige sulfatasedeficiëntie","Mucosulfatidose","Ziekte van Austin"],"definition":"Een zeldzame lysosomale aandoening, gekenmerkt door een klinisch fenotype dat de kenmerken van verschillende sulfatasedeficiënties (al dan niet lysosomaal) combineert. Mogelijke klinische manifestaties zijn onder meer ontwikkelingsachterstand, progressieve neurologische achteruitgang, hydrocefalie, hypotonie, grove gelaatskenmerken, retinopathie, skeletanomalieën, hepatomegalie en variabele gradaties van ichthyosis. Multipele sulfatasedeficiëntie (MSD) omvat ernstige tot geattenueerde vormen die historisch werden geclassificeerd als neonataal (meest ernstige vorm), infantiel (meest voorkomende vorm) of juveniel (meest zeldzame vorm)."},"pt":{"name":"Deficiência múltipla de sulfatase","synonyms":["Doença Austin","MSD","Mucosulfatidose"],"definition":"Doença lisossomal rara caracterizada por um fenótipo clínico que combina as características de diferentes deficiências de sulfatase (sejam lisossomais ou não). As manifestações clínicas podem incluir atraso no desenvolvimento, deterioração neurológica progressiva, hidrocefalia, hipotonia, características faciais grosseiras, retinopatia, anomalias esqueléticas, hepatomegalia e ictiose em um grau variável. A deficiência múltipla de sulfatase (MSD) compreende formas graves a atenuadas historicamente classificadas como neonatal (forma mais grave), infantil (forma mais comum) ou juvenil (forma mais rara)."},"pl":{"name":"Mnogi niedobór sulfataz","synonyms":["MSD","Mukosulfatydoza","Sulfatydoza młodzieńcza typu Austin"]},"cs":{"name":"Mnohočetný sulfatázový deficit","synonyms":["Austin disease","MSD","Mucosulfatidosis"]},"uk":{"name":"Дефіцит множинної сульфатази","synonyms":["Хвороба Остіна","MSD","Мукосульфатидоз"],"definition":"A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form)."},"zh":{"name":"多种硫酸脂酶缺乏症","synonyms":["青少年硫脂贮积病，Austin型"]},"tr":{"name":"Çoklu sülfataz eksikliği","synonyms":["MSD","Mukosülfatidoz","jüvenil sülfatidoz, Austin tipi"]}},"xrefs":[{"source":"OMIM","code":"272200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"848083807"},{"source":"MONDO","code":"0010088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052517","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5061","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":281241,"name":"Autosomal ichthyosis syndrome with fatal disease course","classifications":[156,187]},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]},{"orpha":371442,"name":"Sphingolipidosis with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SUMF1","name":"sulfatase modifying factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17657823[PMID]","hgnc":"20376","ensembl":"ENSG00000144455","omim":"607939","loci":["3p26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":154.0,"area":"Worldwide","status":"Validated","source":"36980153[PMID]_37732042[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"33144036[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007307","label":"Rapid neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}