{"orpha":576,"name":"Mucolipidosis type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["I-cell disease","Mucolipidosis type II alpha/beta","N-acetylglucosamine 1-phosphotransferase deficiency"],"definition":"A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576/","orphanet_url":"https://www.orpha.net/en/disease/detail/576","names":{"fr":{"name":"Mucolipidose type II","synonyms":["Déficit en N-acétylglucosamine-1-phosphotransférase","Maladie des cellules à inclusions","Mucolipidose type II alpha/bêta"],"definition":"Forme rare et sévère de mucolipidose caractérisée par un retard de croissance, des anomalies squelettiques (dysostose multiplexe, craniosynostose, contractures articulaires et ostéopénie), une dysmorphie faciale, une peau parcheminée, une obstruction des voies respiratoires, une cardiomégalie et un retard de développement global sévère."},"de":{"name":"Mukolipidose Typ II","synonyms":["I-Zell-Krankheit","Mukolipidose Typ II alpha/beta","N-Acetylglukosamin-1-Phosphotransferase-Mangel"],"definition":"Eine seltene, schwere Form der Mukolipidose, die durch Wachstumsverzögerung, Skelettanomalien (Dysostosis multiplex, Kraniosynostose, Gelenkkontrakturen und Osteopenie), Gesichtsdysmorphien, steife Haut, obstruktive Atemwege, Kardiomegalie und schwere globale Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Mucolipidosis tipo II","synonyms":["Deficiencia de N-acetilglucosamina-1-fosforiltransferasa","Enfermedad de células I","Mucolipidosis tipo II alfa/beta"],"definition":"Es una forma poco frecuente y grave de mucolipidosis caracterizada por un retraso del crecimiento, anomalías esqueléticas (disostosis múltiple, craneosinostosis, contracturas articulares y osteopenia), dismorfia facial, piel rígida, obstrucción de las vías respiratorias, cardiomegalia y retraso global del desarrollo grave."},"it":{"name":"Mucolipidosi, tipo II","synonyms":["Deficit di N-acetilglucosamina-1-fosfotransferasi","Malattia delle cellule I"],"definition":"Si tratta di una forma rara e grave di mucolipidosi, caratterizzata da ritardo della crescita, anomalie scheletriche (disostosi multipla, craniosinostosi, contratture articolari e osteopenia), dismorfismi facciali, cute rigida, ostruzione delle vie aeree, cardiomegalia e grave ritardo dello sviluppo globale."},"nl":{"name":"Mucolipidose type II","synonyms":["N-acetylglucosamine 1-fosfotransferasedeficiëntie","I-cel ziekte","Mucolipidose type II alfa/bèta"],"definition":"Een zeldzame, ernstige vorm van mucolipidose, gekenmerkt door groeiretardatie, skeletanomalieën (dysostosis multiplex, craniosynostose, contracturen van gewrichten en osteopenie), faciale dysmorfie, stijve huid, obstructieve luchtwegen, cardiomegalie, en ernstige algehele ontwikkelingsachterstand."},"pt":{"name":"Mucolipidose tipo II","synonyms":["Deficiência de N-acetil-glucosamina 1-fosfotransferase","Doença de I-cell","Doença de células de inclusão"],"definition":"Forma rara e grave de mucolipidose caracterizada por atraso do crescimento, anomalias esqueléticas (disostose múltipla, craniossinostose, contracturas das articulações e osteopenia), dismorfia facial, pele rígida, obstrução das vias aéreas, cardiomegália e perturbação grave do desenvolvimento."},"pl":{"name":"Mukolipidoza typu II","synonyms":["Niedobór N-acetyloglukozamino-1-fosfotransferazy","Choroba \"I-cell\""],"definition":"Rzadka, ciężka postać mukolipidozy charakteryzująca się opóźnieniem wzrostu, nieprawidłowościami układu kostnego (mnogie i wadliwe kostnienie, kraniosynostoza, przykurcze stawowe i osteopenia), dysmorfią twarzy, sztywnością skóry, obturacją dróg oddechowych, powiększeniem serca i poważnym, globalnym opóźnieniem rozwoju."},"cs":{"name":"Mukolipidóza, typ II","synonyms":["Deficit N-acetylglukosamin-1-fosfotransferázy","I-cell disease","Nemoc I-buněk"]},"uk":{"name":"Муколіпідоз, тип II","synonyms":["І-клітинна хвороба","Муколіпідоз II типу альфа/бета","Дефіцит N-ацетилглюкозамін-1-фосфотрансферази"],"definition":"A rare, severe form of mucolipidosis characterized by growth retardation, skeletal abnormalities (dysostosis multiplex, craniosynostosis, contractures of the joints and osteopenia), facial dysmorphism, stiff skin, obstructive airway, cardiomegaly and severe global developmental delay."},"zh":{"name":"粘脂贮积症II型","synonyms":["N-乙酰葡萄糖胺-1-磷酸转移酶缺乏症"]},"tr":{"name":"Mukolipidoz tip II","synonyms":["I-hücre hastalığı","Mukolipidoz tip II alfa / beta","N-asetilglukozamin 1-fosfotransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"252500","qualifier":"E","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":"1130629620"},{"source":"MONDO","code":"0009650","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020725","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072928","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":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":79212,"name":"Mucolipidosis","classifications":[147,150,156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"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":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Europe","status":"Validated","source":"10480370[PMID]_14685153[PMID]_ 25274184[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.81,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.2,"area":"Specific population","status":"Validated","source":"18190596[PMID]_1937486[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-10","source":"20301728[PMID]_31687257[PMID]","terms":[{"hpo":"HP:0031650","label":"Abnormal atrioventricular valve physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006596","label":"Restricted chest movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045027","label":"Abnormality of the thoracic cavity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012389","label":"Appendicular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006203","label":"Decreased movement range in interphalangeal joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011359","label":"Dry hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007421","label":"Telangiectases of the cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}