{"orpha":423461,"name":"Mucolipidosis type III alpha/beta","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ML 3 alpha/beta","ML III alpha/beta","Mucolipidosis type 3 alpha/beta"],"definition":"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423461/","orphanet_url":"https://www.orpha.net/en/disease/detail/423461","names":{"fr":{"name":"Mucolipidose type III alpha/bêta","synonyms":["ML 3 alpha/bêta","ML III alpha/bêta","Mucolipidose type 3 alpha/bêta"],"definition":"Maladie lysosomale caractérisée par un retard de croissance progressif à partir de la petite enfance, des raideurs et des douleurs articulaires, une aggravation progressive de la dysmorphie faciale, un retard de développement modéré et une déficience intellectuelle légère chez la plupart des patients."},"de":{"name":"Mukolipidose Typ III alpha/beta","synonyms":["ML 3 alpha/beta","ML III alpha/beta","Mukolipidose Typ 3 alpha/beta"],"definition":"Die Mukolipidose Typ III alpha/beta (MLIII alpha/beta) ist eine lysosomale Erkrankung, die sich durch eine fortschreitende Verlangsamung der Wachstumsrate ab der frühen Kindheit, Steifigkeit und Schmerzen in den Gelenken, eine allmähliche Vergröberung der Gesichtszüge, moderate Entwicklungsverzögerung und leichte geistige Behinderung bei den meisten Patienten auszeichnet."},"es":{"name":"Mucolipidosis tipo III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mucolipidosis tipo 3 alfa/beta"],"definition":"La mucolipidosis tipo III alfa/beta (MLIII alfa/beta) es una enfermedad de depósito lisosomal caracterizada por el retraso progresivo de la tasa de crecimiento desde la primera infancia, rigidez y dolor articular, tosquedad gradual de los rasgos faciales, retraso moderado en el desarrollo y discapacidad intelectual leve en la mayoría de los pacientes."},"it":{"name":"Mucolipidosi, tipo III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mucolipidosi, tipo 3 alfa/beta"],"definition":"La mucolipidosi III alfa/beta (MLIII alfa/beta) è una malattia lisosomiale caratterizzata da progressivo rallentamento della crescita a partire dalla prima infanzia, rigidità e dolore a livello delle articolazioni, lineamenti grossolani ingravescenti, moderato ritardo dello sviluppo e lieve disabilità cognitiva nella maggior parte dei pazienti."},"nl":{"name":"Mucolipidose type III alfa/bèta","synonyms":["ML 3 alfa/bèta","ML III alfa/bèta","Mucolipidose type 3 alfa/bèta"],"definition":"Mucolipidose type III alfa/bèta (ML III alfa/bèta) is een lysosomale stoornis die gekarakteriseerd wordt door progressieve vertraging van de groeisnelheid vanaf de vroege kindertijd, stijfheid en pijn in gewrichten, geleidelijke verruwing van gelaatstrekken, matige ontwikkelingsachterstand en milde intellectuele beperking bij de meeste patiënten."},"pt":{"name":"Mucolipidose tipo III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mucolipidose tipo 3 alfa/beta"]},"pl":{"name":"Mukolipidoza typu III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mukolipidoza typu 3 alfa/beta"]},"cs":{"name":"Mukolipidóza, typ III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mukolipidóza, typ 3 alfa/beta"]},"uk":{"name":"Муколіпідоз, тип III альфа/бета","synonyms":["ML 3 альфа/бета","ML III альфа/бета","Муколіпідоз типу 3 альфа/бета"],"definition":"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."},"zh":{"name":"粘脂质贮积症III型αβ","synonyms":["粘脂质累积3型 alpha/beta"],"definition":"粘脂质累积 III alpha / beta（MLIII alpha / beta）是一种溶酶体疾病，其特征在于儿童早期的生长速度逐渐减慢，关节僵硬和疼痛，面部特征逐渐明显，中等程度的发育迟缓和轻度智力障碍（大部分病人）。"},"tr":{"name":"Mukolipidoz tip III alfa/beta","synonyms":["ML 3 alfa/beta","ML III alfa/beta","Mukolipidoz tip 3 alfa/beta"]}},"xrefs":[{"source":"OMIM","code":"252600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":577,"name":"Mucolipidosis type III","classifications":[147,150,156,199]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Worldwide","status":"Validated","source":"20301730[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-29","source":"20301728[PMID]_20301730[PMID]_29704188[PMID]","terms":[{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009023","label":"Abdominal wall muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040160","label":"Generalized osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012069","label":"Keratan sulfate excretion in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}