{"orpha":582,"name":"Mucopolysaccharidosis type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPS4","MPSIV","Morquio disease","Mucopolysaccharidosis type IV"],"definition":"A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-582/","orphanet_url":"https://www.orpha.net/en/disease/detail/582","names":{"fr":{"name":"Mucopolysaccharidose type 4","synonyms":["MPS4","MPSIV","Maladie de Morquio","Mucopolysaccharidose type IV"],"definition":"Maladie de surcharge lysosomale rare caractérisée par une dysplasie spondylo-épiphyso-métaphysaire légère à sévère, se manifestant par une petite taille disproportionnée (cou et tronc courts), une laxité articulaire, un pectus carinatum, un genu valgum, des troubles de la marche, un rétrécissement de la trachée, des malformations de la colonne vertébrale (cyphose et scoliose), une déficience respiratoire et une cardiopathie valvulaire."},"de":{"name":"Mukopolysaccharidose Typ 4","synonyms":["MPS4","MPSIV","Morquio-Krankheit","Mukopolysaccharidose Typ IV"],"definition":"Eine seltene lysosomale Speicherkrankheit, die durch eine leichte bis schwere spondylo-epiphyseo-metaphysäre Dysplasie gekennzeichnet ist, die sich durch eine überproportionale Kleinwüchsigkeit (kurzer Hals und Rumpf), Gelenklaxität, Pectus carinatum, Genum valgum, abnormalen Gang, Luftröhrenverengung, Wirbelsäulenanomalien (Kyphose und Skoliose), Atemstörungen und Herzklappenerkrankungen äußert."},"es":{"name":"Mucopolisacaridosis tipo 4","synonyms":["Enfermedad de Morquio","MPS4","MPSIV","Mucopolisacaridosis tipo IV"],"definition":"Es una enfermedad de almacenamiento lisosomal poco frecuente caracterizada por displasia espondiloepifisometafisaria de leve a grave que se manifiesta con talla baja desproporcionada (cuello y tronco cortos), laxitud articular, (<i>pectus carinatum</i>, (<i>genu valgum</i>, marcha anómala, estenosis traqueal, anomalías de la columna vertebral (cifosis y escoliosis), alteración respiratoria y valvulopatías."},"it":{"name":"Mucopolisaccaridosi tipo 4","synonyms":["MPS4","MPSIV","Malattia di Morquio","Mucopolisaccaridosi, tipo IV"],"definition":"La mucopolisaccaridosi (MPS) tipo 4 è una malattia rara da accumulo lisosomiale, caratterizzata da displasia spondiloepimetafisaria lieve-grave che si manifesta con bassa statura sproporzionata (collo e tronco corti), lassità articolare, pectus carinatum, ginocchio valgo, anomalie dell'andatura, restringimento della trachea, anomalie della colonna (cifosi e scoliosi), insufficienza respiratoria e valvulopatia cardiaca."},"nl":{"name":"Mucopolysacharidose type 4","synonyms":["MPS4","MPSIV","Mucopolysacharidose type IV","Ziekte van Morquio"],"definition":"Een zeldzame lysosomale stapelingsziekte, gekarakteriseerd door milde tot ernstige spondylo-epimetafysaire dysplasie, en met disproportioneel kleine gestalte (korte nek en romp), gewrichtslaxiteit, pectus carinatum (kippenborst), genu valgum (X-benen), abnormale gang, vernauwing van trachea, afwijkingen van wervelkolom (kyfose en scoliose), verstoorde ademhaling, en aandoening van hartklep als manifestaties."},"pt":{"name":"Mucopolissacaridose tipo 4","synonyms":["MPS4"],"definition":"Doença rara de armazenamento lisossómico caracterizada por displasia espondilo-epifisária-metafisária de ligeira a grave, manifestando-se com baixa estatura desproporcionada (pescoço e tronco curtos), hipermobilidade articular, pectus carinatum, genum valgum, marcha anómala, estreitamento da traqueia, anomalias da coluna vertebral (cifose e escoliose), insuficiência respiratória e doença cardíaca valvular."},"pl":{"name":"Mukopolisacharydoza typu 4","synonyms":["Choroba Morquio","MPS4","MPSIV","Mukopolisacharydoza typu IV"]},"cs":{"name":"Mukopolysacharidóza, typ IV","synonyms":["MPS IV","Mukopolysacharidóza IV. typu","Morquiův syndrom"]},"uk":{"name":"Мукополісахаридоз, тип 4","synonyms":["Хвороба Моркіо","MPS4","MPSIV","Мукополісахаридоз IV типу"],"definition":"A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease."},"zh":{"name":"黏多糖贮积症Ⅵ型","synonyms":["黏多糖贮积症Ⅵ型"]},"tr":{"name":"Mukopolisakkaridoz tip 4","synonyms":["MPS4","MPSIV","Morquio hastalığı","Mukopolisakkaridoz tip IV"]}},"xrefs":[{"source":"OMIM","code":"252300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.32","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2078241550"},{"source":"MONDO","code":"0018938","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026707","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028095","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":79213,"name":"Mucopolysaccharidosis","classifications":[147,150,156,189,199,233]}],"children":[{"orpha":309297,"name":"Mucopolysaccharidosis type 4A","type":"Clinical subtype"},{"orpha":309310,"name":"Mucopolysaccharidosis type 4B","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GALNS","name":"galactosamine (N-acetyl)-6-sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23844448[PMID]","hgnc":"4122","ensembl":"ENSG00000141012","omim":"612222","loci":["16q24.3"],"via":{"orpha":309297,"name":"Mucopolysaccharidosis type 4A"}},{"symbol":"GLB1","name":"galactosidase beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24156116[PMID]","hgnc":"4298","ensembl":"ENSG00000170266","omim":"611458","loci":["3p22.3"],"via":{"orpha":309310,"name":"Mucopolysaccharidosis type 4B"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Sweden","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.76,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":24.2,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.48,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":31.0,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.73,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Tunisia","status":"Validated","source":"20209839[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"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":0.45,"area":"Europe","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.36,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Poland","status":"Validated","source":"25472774[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":27.6,"area":"Europe","status":"Validated","source":"18681890[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.62,"area":"Saudi Arabia","status":"Validated","source":"20622343[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Korea, Republic of","status":"Validated","source":"25364648[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Worldwide","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.038,"area":"United States","status":"Validated","source":"34051828[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000683","label":"Grayish enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}