{"orpha":397941,"name":"MAN1B1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency","Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency","Congenital disorder of glycosylation type II due to MAN1B1 deficiency","Intellectual disability-truncal obesity syndrome"],"definition":"MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene <i>MAN1B1</i> (9q34.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397941/","orphanet_url":"https://www.orpha.net/en/disease/detail/397941","names":{"fr":{"name":"MAN1B1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2 par déficit en MAN1B1","Anomalie congénitale de la glycosylation type II par déficit en MAN1B1","Syndrome de déficience intellectuelle-obésité troncale","Syndrome des glycoprotéines déficientes en hydrates de carbone type II par déficit en MAN1B1"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par une déficience intellectuelle, un retard de développement moteur, une hypotonie et une obésité abdominale. Les autres manifestations sont une légère dysmorphie faciale (hypertélorisme, fentes palpébrales inclinées vers le bas, grandes oreilles d'implantation basse, hypoplasie du sillon nasogénien, lèvre supérieure fine), une hypermobilité des articulations et une laxité de la peau. La maladie est due à des mutations du gène <i>MAN1B1</i> (9q34.3)."},"de":{"name":"MAN1B1-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ II","Intelligenzminderung-stammbetonte Adipositas-Syndrom","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ II durch MAN1B1-Mangel","Kongenitaler Defekt der Glycoproteinbiosynthese Typ II durch MAN1B1-Mangel"]},"es":{"name":"MAN1B1-CDG","synonyms":["Síndrome de discapacidad intelectual-obesidad troncal","Síndrome de glicoproteínas deficientes en carbohidratos por deficiencia de MAN1B1","Trastorno congénito de la glicosilación tipo 2 por deficiencia de MAN1B1","Trastorno congénito de la glicosilación tipo II por deficiencia de MAN1B1"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por discapacidad intelectual, retraso en el desarrollo motor, hipotonía y obesidad troncal. Otros hallazgos adicionales incluyen leve dismorfia facial (hipertelorismo, fisuras palpebrales inclinadas hacia abajo, orejas grandes y de implantación baja, surco nasolabial hipoplásico, labio superior delgado), hipermovilidad articular y piel laxa. La enfermedad está causada por mutaciones en el gen <i>MAN1B1</i> (9q34.3)."},"it":{"name":"MAN1B1-CDG","synonyms":["Sindrome deficit cognitivo-obesità del tronco"],"definition":"La MAN1B1-CDG è una malattia congenita della N-glicosilazione, caratterizzata da disabilità intellettiva, ritardo dello sviluppo motorio, ipotonia e obesità del tronco. Altri segni clinici sono i dismorfismi facciali lievi (ipertelorismo, rime palpebrali oblique verso il basso, orecchie grandi a basso impianto, ipoplasia della plica naso-labiale, labbro superiore sottile), ipermobilità articolare e iperestensibilità della cute. La malattia è causata dalle mutazioni nel gene MAN1B1 (9q34.3)."},"nl":{"name":"MAN1B1-CDG","synonyms":["Congenitale defecten van de glycosylering type 2 door MAN1B1-deficiëntie","Congenitale defecten van de glycosylering type II door MAN1B1-deficiëntie","Congenitale glycosylatiestoornis type 2 door MAN1B1-deficiëntie","Congenitale glycosylatiestoornis type II door MAN1B1-deficiëntie","Intellectuele achterstand - rompobesitas-syndroom","Koolhydraatdeficiënt glycoproteïne syndroom type II door MAN1B1-deficiëntie"],"definition":"MAN1B1-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door intellectuele achterstand, motorische ontwikkelingsachterstand, hypotonie en truncale obesitas. Bijkomende kenmerken zijn onder meer lichte faciale dysmorfie (hypertelorisme, schuin naar beneden hellende ooglidspleten, grote en laagstaande oren, hypoplastische nasolabiale plooien, dunne bovenlip), hypermobiliteit van de gewrichten, en laxiteit van de huid. De ziekte wordt veroorzaakt door mutaties in het gen <i>MAN1B1</i> (9q34.3)."},"pt":{"name":"MAN1B1-CDG","synonyms":["Doença congénita da glicosilação tipo 2 devido a deficiência MAN1B1","Doença congénita da glicosilação tipo II devido a deficiência MAN1B1","Síndrome de glicoproteína deficiente em carbohidratos tipo II devido a deficiência MAN1B1","Síndrome de perturbação do desenvolvimento intelectual-obesidade truncal"]},"pl":{"name":"MAN1B1-CDG","synonyms":["Zespół niepełnosprawności intelektualnej i otyłości tułowiowej","Wrodzone zaburzenie glikozylacji typu 2 spowodowane niedoborem MAN1B1","Wrodzone zaburzenie glikozylacji typu II spowodowane niedoborem MAN1B1","Zespół obniżonej glikozylacji glikoprotein typu II spowodowany niedoborem MAN1B1"]},"cs":{"name":"MAN1B1-CDG","synonyms":["Syndrom zahrnující mentální retardaci a trunkální obezitu"]},"uk":{"name":"MAN1B1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром II типу внаслідок дефіциту MAN1B1","Вроджене порушення глікозилювання типу 2 внаслідок дефіциту MAN1B1","Вроджене порушення глікозилювання ІІ типу внаслідок дефіциту MAN1B1","Синдром інтелектуальної недостатності - хронічного ожиріння"],"definition":"MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene <i>MAN1B1</i> (9q34.3)."},"zh":{"name":"MAN1B1缺乏所致先天性糖基化障碍2型","synonyms":["MAN1B1缺乏所致缺糖基糖蛋白综合征II型"],"definition":"先天性糖基化障碍MAN1B1基因型是一种以智力障碍、运动发育迟缓、肌张力低下和躯干肥胖为特征的N连锁糖基化先天性疾病。本病的其他特征包括轻微的面部畸形(眼距过宽，睑裂下斜，耳朵大而低位，鼻唇皱褶发育不良，上唇薄)，关节过度活动和皮肤松弛。本病是由基因MAN1B1（9q34.3)突变所导致的。"},"tr":{"name":"MAN1B1-CDG","synonyms":["Zihinsel yetersizlik-trunkal obezite sendromu","MAN1B1 eksikliğine bağlı doğumsal glikozilasyon tip 2 bozukluğu","MAN1B1 eksikliğine bağlı doğumsal glikozilasyon tip II bozukluğu","MAN1B1 eksikliğine bağlı karbonhidrat eksikliği olan glikoprotein sendromu tip II"]}},"xrefs":[{"source":"OMIM","code":"614202","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MAN1B1","name":"mannosidase alpha class 1B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24348268[PMID]","hgnc":"6823","ensembl":"ENSG00000177239","omim":"604346","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"21763484[PMID]_24348268[PMID]_26307094[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21763484[PMID]_24348268[PMID]_26307094[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-23","source":"24348268[PMID]_2990835[PMID]_21763484[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012301","label":"Type II transferrin isoform profile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010814","label":"Abnormal position of hair whorl","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004523","label":"Long eyebrows","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010801","label":"Underdeveloped nasolabial fold","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012472","label":"Eclabion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very rare (<4-1%)","criteria":null}]}}