{"orpha":93474,"name":"Scheie syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MPS1S","MPSIS","Mucopolysaccharidosis type 1S","Mucopolysaccharidosis type IS"],"definition":"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93474/","orphanet_url":"https://www.orpha.net/en/disease/detail/93474","names":{"fr":{"name":"Syndrome de Scheie","synonyms":["MPS1S","MPSIS","Mucopolysaccharidose type 1S","Mucopolysaccharidose type IS"],"definition":"Le syndrome de Scheie (MPS1S) est la forme la plus légère de mucopolysaccharidose type 1 (MPS1), une maladie rare du stockage lysosomal caractérisée par des déformations squelettiques et un retard de développement moteur."},"de":{"name":"Scheie-Syndrom","synonyms":["MPS1S","MPSIS","Mukopolysaccharidose Typ 1S","Mukopolysaccharidose Typ IS","Scheie-Krankheit"],"definition":"Das Scheie-Syndrom, die mildeste Form der Mukopolysaccharidose Typ I (MPS I), ist eine seltene lysosomale Speicherkrankheit mit charakteristischen Skelettdeformitäten und verzögerter motorischer Entwicklung."},"es":{"name":"Síndrome de Scheie","synonyms":["MPS1S","MPSIS","Mucopolisacaridosis tipo 1S","Mucopolisacaridosis tipo IS"],"definition":"El síndrome de Scheie es la forma más leve de mucopolisacaridosis tipo 1 (MPS1; ver término), una enfermedad rara por almacenamiento lisosomal, caracterizada por anomalías esqueléticas y retraso en el desarrollo motor."},"it":{"name":"Sindrome di Scheie","synonyms":["MPS1S","MPSIS","Mucopolisaccaridosi, tipo 1S","Mucopolisaccaridosi, tipo IS"]},"nl":{"name":"Syndroom van Scheie","synonyms":["MPS1S","MPSIS","Mucopolysacharidose type 1S","Mucopolysacharidose type IS"],"definition":"Het syndroom van Scheie is de mildste vorm van mucopolysaccharidose type 1 (MPS1; zie deze term), een zeldzame lysosomale stapelingsziekte die gekenmerkt wordt door skeletmisvormingen en een motorische ontwikkelingsachterstand."},"pt":{"name":"Síndrome Scheie","definition":"A síndrome Scheie é a forma mais ligeira de mucopolissacaridose tipo 1 (MPS1; ver este termo), uma doença de armazenamento lisossomal rara, caracterizada por deformidades esqueléticas e um atraso no desenvolvimento motor."},"pl":{"name":"Zespół Scheie","synonyms":["MPS1S","MPSIS","Mukopolisacharydoza typu 1S","Mukopolisacharydoza typu IS"]},"cs":{"name":"Scheieův syndrom","synonyms":["MPS1S","MPSIS","Mukopolysacharidóza, typ 1S","Mukopolysacharidóza, typ IS"]},"uk":{"name":"Синдром Шейє","synonyms":["MPS1S","MPSIS","Мукополісахаридоз типу 1S","Мукополісахаридоз типу ІС"],"definition":"Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."},"zh":{"name":"Scheie综合征","synonyms":["粘多糖贮积症IS型"],"definition":"Scheie综合征是粘多糖病I型（MPS1；见该词条）中最轻的一种，是一种罕见的溶酶体贮积病，以骨骼畸形和运动发育迟缓为特征。"},"tr":{"name":"Scheie sendromu","synonyms":["MPS1S","MPSIS","Mukopolisakkaridoz tip 1S","Mukopolisakkaridoz tipi IS"]}},"xrefs":[{"source":"OMIM","code":"607016","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2128730057"},{"source":"MONDO","code":"0011760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026708","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12561","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":579,"name":"Mucopolysaccharidosis type 1","classifications":[147,150,156,181,189,199,233]}],"children":[],"genes":[{"symbol":"IDUA","name":"alpha-L-iduronidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8680403[PMID]","hgnc":"5391","ensembl":"ENSG00000127415","omim":"252800","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Canada","status":"Validated","source":"4250044[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United Kingdom","status":"Validated","source":"18796143[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Canada","status":"Validated","source":"4250044[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United Kingdom","status":"Validated","source":"18796143[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}