{"orpha":93476,"name":"Hurler-Scheie syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MPS1H/S","MPSIH/S","Mucopolysaccharidosis type 1H/S","Mucopolysaccharidosis type IH/S"],"definition":"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93476/","orphanet_url":"https://www.orpha.net/en/disease/detail/93476","names":{"fr":{"name":"Syndrome de Hurler-Scheie","synonyms":["MPS1H/S","MPSIH/S","Mucopolysaccharidose type 1H/S","Mucopolysaccharidose type IH/S"],"definition":"Le syndrome de Hurler-Scheie est une forme intermédiaire de mucopolysaccharidose type 1 (MPS1) entre les deux syndromes extrêmes de Hurler et de Scheie (MPS1H/S), une maladie rare de stockage lysosomal caractérisée par des déformations squelettiques et un retard de développement moteur."},"de":{"name":"Hurler-Scheie-Syndrom","synonyms":["Hurler-Scheie-Variante","MPS1H/S","MPSIH/S","Mukopolysaccharidose Typ 1H/S","Mukopolysaccharidose Typ IH/S"],"definition":"Das Hurler-Scheie-Syndrom ist die intermediäre Form der Mukopolysaccharidose Typ I (MPS I) zwischen den Extremen Hurler-Syndrom und Scheie-Syndrom. Es ist eine seltene lysosomale Speicherkrankheit mit Deformitäten des Skeletts und verzögerter motorischer Entwicklung."},"es":{"name":"Síndrome de Hurler-Scheie","synonyms":["MPS1H/S","MPSIH/S","Mucopolisacaridosis tipo 1H/S","Mucopolisacaridosis tipo IH/S"],"definition":"El síndrome de Hurler-Scheie es la forma de gravedad intermedia de la mucopolisacaridosis tipo 1 (MPS 1; ver término), situada entre los dos extremos, el síndrome de Hurler y el de Scheie; es una enfermedad rara por almacenamiento lisosomal, caracterizada por anomalías esqueléticas y retraso en el desarrollo motor."},"it":{"name":"Sindrome di Hurler-Scheie","synonyms":["MPS1H/S","MPSIH/S","Mucopolisaccaridosi, tipo 1H/S","Mucopolisaccaridosi, tipo IH/S"]},"nl":{"name":"Syndroom van Hurler-Scheie","synonyms":["MPS1H/S","MPSIH/S","Mucopolysacharidose type 1H/S","Mucopolysacharidose type IH/S"],"definition":"Syndroom van Hurler-Scheie is de intermediaire vorm van mucopolysaccharidose type 1 (MPS1; zie deze term), tussen de twee extremen van syndroom van Hurler en syndroom van Scheie (zie deze termen); het is een zeldzame lysosomale stapelingsziekte gekenmerkt door skeletmisvormingen en een motorische ontwikkelingsachterstand."},"pt":{"name":"Síndrome Hurler-Scheie","definition":"A síndrome Hurler-Scheie é a forma intermédia da mucopolissacaridose tipo 1 (MPS1; ver este termo) entre os dois extremos - síndrome Hurler e síndrome Scheie (ver estes termos); é uma doença de armazenamento lisossomal rara, caracterizada por deformações esqueléticas e atraso no desenvolvimento motor."},"pl":{"name":"Zespół Hurler i Scheie","synonyms":["MPS1H/S","MPSIH/S","Mukopolisacharydoza typu 1H/S","Mukopolisacharydoza typu IH/S"]},"cs":{"name":"Syndrom Hurlerové-Scheieův","synonyms":["MPS1H/S","MPSIH/S","Mukopolysacharidóza, typ 1H/S","Mukopolysacharidóza, typ IH/S","Syndrom Hurler-Scheieův"]},"uk":{"name":"Синдром Гурлера-Шейє","synonyms":["MPS1H/S","MPSIH/S","Мукополісахаридоз типу 1H/S","Мукополісахаридоз типу IH/S"],"definition":"Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."},"zh":{"name":"Hurler-Scheie综合征","synonyms":["粘多糖贮积症IH/S型"],"definition":"Hurler-Scheie综合征是介于Hurler综合征和Scheie综合征（见这些词条）两个极端之间的粘多糖病I型（MPS1；见该词条）的中间形式，它是一种罕见的溶酶体贮积疾病，以骨骼畸形和运动发育迟缓为特征。"},"tr":{"name":"Hurler-Scheie sendromu","synonyms":["MPS1H / S","MPSIH / S","Mukopolisakkaridoz tipi 1H / S","Mukopolisakkaridoz tip IH / S"]}},"xrefs":[{"source":"OMIM","code":"607015","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":"1362195023"},{"source":"MONDO","code":"0011759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086431","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12560","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"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":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"United Kingdom","status":"Validated","source":"18796143[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","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:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null}]}}