{"orpha":423470,"name":"Mucolipidosis type III gamma","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ML 3 gamma","ML III gamma","Mucolipidosis type 3 gamma"],"definition":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423470/","orphanet_url":"https://www.orpha.net/en/disease/detail/423470","names":{"fr":{"name":"Mucolipidose type III gamma","synonyms":["ML 3 gamma","ML III gamma","Mucolipidose type 3 gamma"],"definition":"Maladie lysosomale très rare, principalement observée au Moyen-Orient, caractérisée par un ralentissement progressif de la croissance pendant la petite enfance, des raideurs et des douleurs dans les épaules, les hanches et les articulations des doigts, des traits de visage légèrement grossiers qui s'installent progressivement, ainsi que par une progression plus lente, une évolution clinique moins sévère et une espérance de vie plus longue que celles observées dans la mucolipidose type II et la mucolipidose type III alpha/bêta. Les fonctions cognitives sont normales ou légèrement altérées, et quelques cas de rétinite pigmentaire ont été signalés. De nombreux patients survivent jusqu'au début de l'âge adulte, mais finissent par succomber à une insuffisance cardiorespiratoire."},"de":{"name":"Mukolipidose Typ III gamma","synonyms":["ML 3 gamma","ML III gamma","Mukolipidose Typ 3 gamma"]},"es":{"name":"Mucolipidosis tipo III gamma","synonyms":["ML 3 gamma","ML III gamma","Mucolipidosis tipo 3 gamma"],"definition":"Es una enfermedad lisosomal muy poco frecuente descrita con mayor frecuencia en el Medio Oriente y que está caracterizada por una disminución progresiva de la tasa de crecimiento en la primera infancia; rigidez y dolor en los hombros, caderas y articulaciones de los dedos; engrosamiento gradual y leve de los rasgos faciales; y por una progresión más lenta, un curso clínico más leve y una esperanza de vida más larga que la observada en la mucolipidosis tipo II y la mucolipidosis tipo III alfa/beta. La función cognitiva es normal o está levemente afectada y se ha descrito retinosis pigmentaria en algunos pacientes. Muchos sobreviven hasta la edad adulta temprana, pero finalmente sucumben a la insuficiencia cardiorrespiratoria."},"it":{"name":"Mucolipidosi, tipo III gamma","synonyms":["ML 3 gamma","ML III gamma","Mucolipidosi, tipo 3 gamma"]},"nl":{"name":"Mucolipidose type III gamma","synonyms":["ML 3 gamma","ML III gamma","Mucolipidose type 3 gamma"],"definition":"Een zeer zeldzame lysosomale aandoening die het vaakst wordt waargenomen in het Midden-Oosten, gekenmerkt door progressieve vertraging van de groeisnelheid in de vroege kindertijd; stijfheid en pijn in schouders, heupen, en gewrichten van vingers; graduele, milde verruwing van gelaatskenmerken; en tragere progressie, milder klinisch verloop en langere levensverwachting dan wordt waargenomen bij mucolipidose type II en mucolipidose type III alfa/bèta. Cognitieve functie is normaal of slechts licht verstoord, en bij enkele patiënten werd retinitis pigmentosa gerapporteerd. Velen overleven tot in de vroege volwassenheid, maar bezwijken uiteindelijk aan cardiorespiratoire insufficiëntie."},"pt":{"name":"Mucolipidose tipo III gama","synonyms":["ML 3 gama","ML III gama","Mucolipidose tipo 3 gama"]},"pl":{"name":"Mukolipidoza typu III gamma","synonyms":["ML 3 gamma","ML III gamma","Mukolipidoza typu 3 gamma"]},"cs":{"name":"Mukolipidóza, typ III gamma","synonyms":["ML 3 gama","ML III gama","Mukolipidóza, typ 3 gama"]},"uk":{"name":"Муколіпідоз, тип III гамма","synonyms":["ML 3 гамма","ML III гамма","Муколіпідоз типу 3 гамма"],"definition":"Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency."},"zh":{"name":"粘脂质贮积症III型γ","synonyms":["粘脂质累积3型γ"],"definition":"III型粘脂质累积（ML 3 gamma）是一种非常罕见的溶酶体病，在中东地区最常见，其特征是幼儿期的生长速度逐渐减慢；肩膀，臀部和手指关节的僵硬和疼痛感；面部特征逐渐显现；与II型粘脂质累积病和III型粘脂质累积病的alpha / beta亚型相比，进展较慢，临床过程更温和，寿命较长。认知功能正常或仅轻微受损，少数患者有色素性视网膜炎的报道。许多人存活到成年初期，但最终可能死于心肺功能不全。"},"tr":{"name":"Mukolipidoz tip III gama","synonyms":["ML 3 gama","ML III gama","Mukolipidozis tip 3 gama"]}},"xrefs":[{"source":"OMIM","code":"252605","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":"0009652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854896","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301784[PMID]"}],"phenotypes":null}