{"orpha":466703,"name":"TMEM199-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIp","CDG-IIp","CDG2P","Carbohydrate deficient glycoprotein syndrome type IIp","Congenital disorder of glycosylation type 2p","Congenital disorder of glycosylation type IIp"],"definition":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466703/","orphanet_url":"https://www.orpha.net/en/disease/detail/466703","names":{"fr":{"name":"TMEM199-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2p","Anomalie congénitale de la glycosylation type IIp","CDG-IIp","CDG2P","Syndrome CDG type IIp","Syndrome des glycoprotéines déficientes en hydrates de carbone IIp"],"definition":"Anomalie congénitale rare de la glycosylation caractérisée par une maladie hépatique chronique et non progressive, se manifestant par une stéatose légère avec une augmentation des transaminases sériques et de la phosphatase alcaline, une hypercholestérolémie et une diminution des facteurs de coagulation et de la céruloplasmine. Le profil de glycosylation de la transferrine est évocateur d'une maladie congénitale de la glycosylation type 2. La biopsie du foie peut montrer une fibrose légère non progressive. Les patients sont généralement asymptomatiques, bien que des cas isolés de retard de développement psychomoteur et d'hypotonie aient été rapportés."},"de":{"name":"TMEM199-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 2p","CDG-IIp","CDG-Syndrom Typ IIp","CDG2P","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIp","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIp"],"definition":"Eine seltene kongenitale Glykosylierungsstörung, die durch eine chronische, nicht-progrediente Lebererkrankung gekennzeichnet ist, die sich als leichte Steatose mit erhöhten Serumtransaminasen und alkalischer Phosphatase, Hypercholesterinämie und verminderten Gerinnungsfaktoren und Ceruloplasmin manifestiert. Das Transferrin-Glykosylierungsmuster stimmt mit einer kongenitalen Glykosylierungsstörung vom Typ 2 überein. Die Leberbiopsie kann eine leichte, nicht-progrediente Fibrose zeigen. Die Patienten bleiben in der Regel asymptomatisch, obwohl in Einzelfällen über eine verzögerte psychomotorische Entwicklung und Hypotonie berichtet wurde."},"es":{"name":"TMEM199-CDG","synonyms":["CDG-IIp","CDG2P","Síndrome CDG tipo IIp","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIp","Trastorno congénito de la glicosilación tipo 2p","Trastorno congénito de la glicosilación tipo IIp"],"definition":"Es un trastorno congénito poco frecuente de la glicosilación caracterizado por enfermedad hepática crónica no progresiva, que se manifiesta como esteatosis leve con aumento de las transaminasas séricas y la fosfatasa alcalina, hipercolesterolemia y disminución de los factores de coagulación y ceruloplasmina. El patrón de glicosilación de la transferrina es consistente con un trastorno congénito de la glicosilación tipo 2. La biopsia hepática puede mostrar fibrosis leve no progresiva. Los pacientes suelen permanecer asintomáticos, aunque en casos aislados se ha descrito retraso del desarrollo psicomotor e hipotonía."},"it":{"name":"TMEM199-CDG","definition":"Si tratta di una malattia congenita rara della glicosilazione, caratterizzata da epatopatia cronica non progressiva, che si manifesta con una lieve steatosi associata a livelli elevati delle transaminasi e della fosfatasi alcalina nel siero, ipercolesterolemia e riduzione dei fattori della coagulazione e della ceruloplasmina. Il profilo della glicosilazione della transferrina è coerente con una malattia congenita della glicosilazione di tipo 2. La biopsia del fegato può mostrare una fibrosi lieve non progressiva. I pazienti di solito sono asintomatici, ma sono stati descritti casi isolati di ritardo dello sviluppo psicomotorio e ipotonia."},"nl":{"name":"TMEM199-CDG","synonyms":["CDG-IIp","CDG-syndroom type IIp","CDG2P","Congenitale defecten van de glycosylering type 2p","Congenitale defecten van de glycosylering type IIp","Congenitale glycosylatiestoornis type 2p","Congenitale glycosylatiestoornis type IIp"],"definition":"Een zeldzame congenitale glycosylatiestoornis, gekenmerkt door chronische, niet-progressieve leverziekte, die zich manifesteert als milde steatose met verhoogde gehaltes van transaminases en alkalische fosfatase in serum, hypercholesterolemie, en verminderde hoeveelheid coagulatiefactoren en ceruloplasmine. Het glycosylatiepatroon van transferrine is consistent met een type 2 congenitale glycosylatiestoornis. Biopsie van lever toont mogelijk milde niet-progressieve fibrose. Patiënten blijven meestal asymptomatisch, hoewel psychomotorische ontwikkelingsachterstand en hypotonie ook reeds werden gerapporteerd in alleenstaande gevallen."},"pt":{"name":"TMEM199-CDG","synonyms":["CDG-IIp","CDG2P","Doença congénita da glicosilação tipo 2p","Doença congénita da glicosilação tipo IIp","Síndrome CDG tipo IIp","Síndrome de glicoproteína deficiente em carbohidratos tipo IIp"],"definition":"Defeito congénito raro da glicosilação caracterizado por doença hepática crónica e não progressiva, manifestando-se como esteatose leve com elevação das transaminases e da fosfatase alcalina séricas, hipercolesterolemia e diminuição dos fatores de coagulação e da ceruloplasmina. O padrão de glicosilação da transferrina é consistente com um distúrbio congénito da glicosilação tipo 2. A biópsia hepática pode mostrar fibrose leve e não progressiva. Os doentes geralmente permanecem assintomáticos, embora atraso no desenvolvimento psicomotor e hipotonia tenham sido relatados em casos isolados."},"pl":{"name":"TMEM199-CDG","synonyms":["CDG2P","CDG-IIp","Wrodzone zaburzenia glikozylacji typu 2p","Wrodzone zaburzenia glikozylacji typu IIp","Zespół CDG typu IIp","Zespół obniżonej glikozylacji glikoprotein typu IIp"]},"cs":{"name":"TMEM199-CDG","synonyms":["CDG2P","CDG-IIp","CDG syndrome type IIp","Congenital disorder of glycosylation type 2p","Congenital disorder of glycosylation type IIp","Carbohydrate deficient glycoprotein syndrome type IIp","CDG syndrom typ IIp","Vrozená porucha glykosylace typ 2p","Vrozená porucha glykosylace typ IIp","Glykoproteinový syndrom deficitu sacharidů typu IIp"]},"uk":{"name":"TMEM199-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIp","Синдром CDG, тип IIp","CDG2P","CDG-IIp","Вроджене порушення глікозилювання типу 2p","Вроджене порушення глікозилювання типу IIp"],"definition":"A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases."},"zh":{"name":"TMEM199相关糖基化异常疾病","synonyms":["碳水化合物缺乏糖蛋白综合征llp型"]},"tr":{"name":"TMEM199-CDG","synonyms":["CDG2P","CDG-IIp","CDG sendromu tip IIp","Glikozilasyon Tip 2p'nin doğumsal bozukluğu","Glikozilasyon Tip IIp'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIp"]}},"xrefs":[{"source":"OMIM","code":"616829","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225190","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":477811,"name":"Rare hypercholesterolemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"VMA12","name":"vacuolar ATPase assembly factor VMA12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26833330[PMID]","hgnc":"18085","ensembl":"ENSG00000244045","omim":"616815","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"19067230[PMID]_26833330[PMID]_29321044[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19067230[PMID]_26833330[PMID]_29321044[PMID]"}],"phenotypes":null}