{"orpha":577,"name":"Mucolipidosis type III","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudo-Hurler polydystrophy"],"definition":"A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-577/","orphanet_url":"https://www.orpha.net/en/disease/detail/577","names":{"fr":{"name":"Mucolipidose type III","synonyms":["Pseudopolydystrophie de Hurler"],"definition":"Maladie lysosomale rare caractérisée par une dysmorphie faciale, des anomalies squelettiques, une mobilité articulaire limitée, une petite taille et des déformations des mains (mains en griffe, rigidité des mains, syndrome du canal carpien, incapacité à serrer le poing). Les capacités intellectuelles de la plupart des patients sont normales et la progression clinique est moins rapide qu'en cas de mucolipidose type II (MLII)."},"de":{"name":"Mukolipidose Typ III","synonyms":["Pseudo-Hurler-Polydystrophie"],"definition":"Eine seltene lysosomale Erkrankung, die durch dysmorphe Merkmale und Skelettveränderungen, eingeschränkte Gelenkbeweglichkeit, Kleinwuchs und Handdeformitäten (z. B. Klauenhände, Steifheit der Hände, Karpaltunnelsyndrom, Unfähigkeit, Fäuste zu machen) gekennzeichnet ist. Die meisten Patienten haben normale intellektuelle Fähigkeiten, und der klinische Verlauf ist weniger schnell als bei der Mukolipidose Typ II (MLII)."},"es":{"name":"Mucolipidosis tipo III","synonyms":["Pseudopolidistrofia de Hurler"],"definition":"Es una enfermedad lisosomal poco frecuente caracterizada por rasgos dismórficos y cambios esqueléticos, restricción de la movilidad articular, talla baja y deformidades de las manos (como manos en garra, rigidez de las manos, síndrome del túnel carpiano, incapacidad para cerrar los puños). La mayoría de los pacientes presenta un desarrollo intelectual normal y la progresión clínica es más lenta que la de la mucolipidosis tipo II (MLII)."},"it":{"name":"Mucolipidosi tipo III","synonyms":["Polidistrofia pseudo-Hurler"],"definition":"La mucolipidosi tipo III (MLIII) è una malattia lisosomiale rara, caratterizzata da dismorfismi e alterazioni scheletriche, limitazione della mobilità articolare, bassa statura e deformità delle mani (mani ad artiglio, rigidità delle mani, sindrome del tunnel carpale, incapacità di chiudere i pugni). Nella maggior parte dei pazienti l'intelligenza è normale. La progressione clinica è meno rapida rispetto a quella della mucolipidosi tipo II (MLII)."},"nl":{"name":"Mucolipidose type III","synonyms":["Pseudo-Hurler polydystrofie"],"definition":"Een zeldzame lysosomale aandoening, gekenmerkt door dysmorfe kenmerken en veranderingen van skelet, beperkte gewrichtsmobiliteit, kleine gestalte, en deformiteit van hand (zoals klauwhanden, stijfheid van handen, carpale tunnel-syndroom, onvermogen een vuist te maken). De meeste patiënten hebben normale intellectuele capaciteiten, en de klinische progressie verloopt minder snel dan die van mucolipidose type II (MLII)."},"pt":{"name":"Mucolipidose tipo III","synonyms":["Polidistrofia pseudo-Hurler"],"definition":"Doença lisossómica rara caracterizada por dismorfia e alterações esqueléticas, restrição da mobilidade articular, baixa estatura e deformidades nas mãos (mãos em garra, rigidez das mãos, síndrome do túnel cárpico, incapacidade de fechar os punhos). A maioria dos doentes não apresenta perturbação do desenvolvimento e a evolução clínica é mais lenta que a da mucolipidose tipo II (MLII)."},"pl":{"name":"Mukolipidoza typu III","synonyms":["Polidystrofia pseudo-Hurler"],"definition":"Rzadka choroba lizosomalna charakteryzująca się cechami dysmorficznymi i zmianami w kośćcu, ograniczoną ruchomością stawów, niskim wzrostem i deformacjami dłoni (dłonie szponiaste, sztywność dłoni, zespół cieśni nadgarstka, niemożność zaciśnięcia dłoni w pięść). U większości pacjentów nie występuje niepełnosprawność intelektualna, a postęp choroby jest wolniejszy niż w przypadku mukolipidozy typu II (MLII)."},"cs":{"name":"Mukolipidóza, typ III","synonyms":["Pseudo-Hurlerové polydystrofie"]},"uk":{"name":"Муколіпідоз, тип III","synonyms":["Псевдо-Гурлерівська полідистрофія"],"definition":"A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII)."},"zh":{"name":"粘脂贮积症III型","synonyms":["假性胡尔勒多种营养不良"]},"tr":{"name":"Mukolipidoz tip III","synonyms":["Psödo-Hurler polidistrofi"]}},"xrefs":[{"source":"OMIM","code":"252600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252605","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1736525440"},{"source":"UMLS","code":"C0033788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3806","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072929","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":79212,"name":"Mucolipidosis","classifications":[147,150,156]}],"children":[{"orpha":423461,"name":"Mucolipidosis type III alpha/beta","type":"Clinical subtype"},{"orpha":423470,"name":"Mucolipidosis type III gamma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GNPTAB","name":"N-acetylglucosamine-1-phosphate transferase subunits alpha and beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18425436[PMID]","hgnc":"29670","ensembl":"ENSG00000111670","omim":"607840","loci":["12q23.2"],"via":{"orpha":423461,"name":"Mucolipidosis type III alpha/beta"}},{"symbol":"GNPTG","name":"N-acetylglucosamine-1-phosphate transferase subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20034096[PMID]_19708128[PMID]","hgnc":"23026","ensembl":"ENSG00000090581","omim":"607838","loci":["16p13.3"],"via":{"orpha":423470,"name":"Mucolipidosis type III gamma"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.985,"area":"Europe","status":"Validated","source":"10480370[PMID]_ 14685153[PMID]_ ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":1.68,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":29.55,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Netherlands","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":50.4,"area":"Portugal","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-02","source":"20301784[PMID]_29704188[PMID]_36869440[PMID]","terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003264","label":"Deficiency of N-acetylglucosamine-1-phosphotransferase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008821","label":"Hypoplastic inferior ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025261","label":"Stiff finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009837","label":"Bullet-shaped distal phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034337","label":"Claw hand deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}