{"orpha":93473,"name":"Hurler syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hurler disease","MPS1H","MPSIH","Mucopolysaccharidosis type 1H","Mucopolysaccharidosis type IH"],"definition":"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93473/","orphanet_url":"https://www.orpha.net/en/disease/detail/93473","names":{"fr":{"name":"Syndrome de Hurler","synonyms":["MPS1H","MPSIH","Maladie de Hurler","Mucopolysaccharidose type 1H","Mucopolysaccharidose type IH"],"definition":"Le syndrome de Hurler (MPS1H) est la forme la plus sévère de mucopolysaccharidose type 1 (MPS1), une maladie rare du stockage lysosomal caractérisée par des anomalies squelettiques, une atteinte cognitive, une maladie cardiaque, des troubles respiratoires, une hépatosplénomégalie, une dysmorphie faciale et une diminution de l'espérance de vie."},"de":{"name":"Hurler-Syndrom","synonyms":["Hurler-Krankheit","MPS1H","MPSIH","Mukopolysaccharidose Typ 1H","Mukopolysaccharidose Typ IH"],"definition":"Das Hurler-Syndrom ist die schwerste Form der Mukopolysaccharidose Typ 1 (MPS1; siehe diesen Begriff), einer seltenen lysosomalen Speicherkrankheit, die durch Skelettanomalien, kognitive Beeinträchtigungen, Herzerkrankungen, Atemwegsprobleme, vergrößerte Leber und Milz, charakteristische Gesichtszüge und reduzierte Lebenserwartung gekennzeichnet ist."},"es":{"name":"Síndrome de Hurler","synonyms":["Enfermedad de Hurler","MPS1H","MPSIH","Mucopolisacaridosis tipo 1H","Mucopolisacaridosis tipo IH"],"definition":"El síndrome de Hurler es la forma más grave de mucopolisacaridosis tipo 1 (MPS1; ver término), una enfermedad rara de depósito lisosomal caracterizada por anomalías esqueléticas, deterioro cognitivo, enfermedad cardíaca, problemas respiratorios, hígado y bazo agrandados, rasgos faciales característicos y esperanza de vida reducida."},"it":{"name":"Sindrome di Hurler","synonyms":["MPS1H","MPSIH","Malattia di Hurler","Mucopolisaccaridosi, tipo 1H","Mucopolisaccaridosi, tipo IH"],"definition":"La sindrome di Hurler è la forma più grave della mucopolisaccaridosi tipo 1 (MPS 1; si veda questo termine), una malattia rara da accumulo lisosomiale caratterizzata da difetti scheletrici, deficit cognitivo, cardiopatia, disturbi respiratori, epato- e splenomegalia, facies caratteristica e ridotte attese di vita."},"nl":{"name":"Syndroom van Hurler","synonyms":["MPS1H","MPSIH","Mucopolysacharidose type 1H","Mucopolysacharidose type IH","Ziekte van Hurler"],"definition":"Het Hurlersyndroom is de meest ernstige vorm van mucopolysaccharidose type 1 (MPS1; zie deze term), een zeldzame lysosomale stapelingsziekte gekenmerkt door skeletafwijkingen, intellectuele achterstand, hartziekte, ademhalingsmoeilijkheden, vergrote lever en milt, karakteristiek aangezicht en een verminderde levensverwachting."},"pt":{"name":"Síndrome de Hurler","definition":"A síndrome de Hurler é a forma mais grave de mucopolissacaridose tipo 1 (MPS1; ver este termo), uma doença de armazenamento lisossomal, rara, caracterizada por anomalias esqueléticas, doença cardíaca, disfunção respiratória, aumento do baço e fígado, facies característica e redução da esperança média de vida."},"pl":{"name":"Zespół Hurler","synonyms":["Choroba Hurler","MPS1H","MPSIH","Mukopolisacharydoza typu 1H","Mukopolisacharydoza typu IH"]},"cs":{"name":"Hurlerové syndrom","synonyms":["Hurlerové nemoc","MPS1H","MPSIH","Mukopolysacharidóza, typ 1H","Mukopolysacharidóza, typ IH"]},"uk":{"name":"Синдром Гурлера","synonyms":["Хвороба Гурлера","MPS1H","MPSIH","Мукополісахаридоз типу 1H","Мукополісахаридоз типу IH"],"definition":"Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."},"zh":{"name":"Hurler综合征","synonyms":["粘多糖贮积症IH型"],"definition":"Hurler综合征是粘多糖病I型（MPS1；见该词条）中最严重的一种，是一种罕见的溶酶体贮积病，其特征是骨骼异常、认知障碍、心脏病、呼吸系统问题、肝脾肿大、特征面容和预期寿命缩短。"},"tr":{"name":"Hurler sendromu","synonyms":["MPS1H","MPSIH","Hurler hastalığı","Mukopolisakkaridoz tip 1H","Mukopolisakkaridoz tip IH"]}},"xrefs":[{"source":"OMIM","code":"607014","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":"1925191093"},{"source":"MONDO","code":"0011758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0086795","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":217638,"name":"Lysosomal disease with restrictive cardiomyopathy","classifications":[146,156,233]},{"orpha":579,"name":"Mucopolysaccharidosis type 1","classifications":[147,150,156,181,189,199,233]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"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":0.64,"area":"Germany","status":"Validated","source":"16435194[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.05,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Taiwan, Province of China","status":"Validated","source":"19396827[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.93,"area":"Australia","status":"Validated","source":"14608657[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"ORPHANET_16435194[PMID]_14685153[PMID]_18681890[PMID]_18796143[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.76,"area":"United Kingdom","status":"Validated","source":"18796143[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"30083796[PMID]","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:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100765","label":"Abnormality of the tonsils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","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:0100790","label":"Hernia","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:0100729","label":"Large face","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:0012384","label":"Rhinitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","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:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011369","label":"Mongolian blue spot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null}]}}