{"orpha":319646,"name":"PGM1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type It","CDG-It","CDG1T","Congenital disorder of glycosylation type 1t","Congenital disorder of glycosylation type It","PGM1-related congenital disorder of glycosylation","Phosphoglucomutase-1 deficiency"],"definition":"A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319646/","orphanet_url":"https://www.orpha.net/en/disease/detail/319646","names":{"fr":{"name":"PGM1-CDG","synonyms":["Anomalie congénitale de la glycosylation associée à PGM1","Anomalie congénitale de la glycosylation type 1t","CDG-It","CDG1T","Déficit en phosphoglucomutase-1","Syndrome CDG type It","Syndrome des glycoprotéines déficientes en hydrates de carbone type It"],"definition":"Anomalie congénitale rare de la glycosylation et de stockage du glycogène d'origine génétique, caractérisée par de nombreuses manifestations cliniques, dont les plus fréquentes sont une luette bifide avec ou sans fente palatine à la naissance, associée à un retard de croissance, une hépatopathie avec des taux sériques élevés d'aminotransférases, une myopathie (y compris une fatigue liée à l'exercice, une intolérance à l'effort, une faiblesse musculaire), une hypoglycémie intermittente et une cardiomyopathie dilatée et/ou un arrêt cardiaque, dus à une diminution de l'activité enzymatique de la phosphoglucomutase 1. Parmi les manifestations moins fréquentes figurent une hyperthermie maligne, une rhabdomyolyse et un hypogonadisme hypogonadotrope avec retard pubertaire."},"de":{"name":"PGM1-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 1t","CDG-It","CDG-Syndrom Typ It","CDG1t","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ It","Kongenitaler Defekt der Glycoproteinbiosynthese Typ It","Phosphoglukomutase-1-Mangel"],"definition":"Eine genetisch bedingte kongenitale Glykosylierungsstörung und Glykogenose, die sich durch ein breites Spektrum klinischer Manifestationen auszeichnet. Zu den häufigsten Manifestationen bei der Geburt gehören eine bifide Uvula mit oder ohne Gaumenspalte. Weitere Symptome umfassen Wachstumsverzögerung, Hepatopathie mit erhöhten Aminotransferase-Serumspiegeln, Myopathie (einschließlich belastungsbedingter Müdigkeit, Belastungsintoleranz, Muskelschwäche), intermittierender Hypoglykämie und dilatativer Kardiomyopathie und/oder Herzstillstand aufgrund einer verminderten Phosphoglucomutase-1-Enzymaktivität. Zu den selteneren Manifestationen gehören maligne Hyperthermie, Rhabdomyolyse und hypogonadotroper Hypogonadismus mit verzögerter Pubertät."},"es":{"name":"PGM1-CDG","synonyms":["CDG-It","CDG1T","Deficiencia de fosfoglucomutasa-1","Síndrome CDG tipo It","Trastorno congénito de la glicosilación asociado a PGM1","Trastorno congénito de la glicosilación tipo 1t","Trastorno congénito de la glicosilación tipo It"],"definition":"Es un trastorno de origen genético, congénito y poco frecuente de la glicosilación y del almacenamiento del glucógeno caracterizado por un amplio rango de manifestaciones clínicas, presentándose con mayor frecuencia con úvula bífida, con o sin paladar hendido al nacimiento, asociada a retraso del crecimiento, hepatopatía con incremento de los niveles séricos de aminotransferasa, miopatía (incluyendo fatiga inducida por el ejercicio físico, intolerancia al ejercicio, debilidad muscular), hipoglucemia intermitente y cardiomiopatía dilatada y/o paro cardíaco, debido a una disminución de la actividad de la enzima fosfoglucomutasa 1. Otros hallazgos menos comunes incluyen la hipertermia maligna, rabdomiolisis e hipogonadismo hipogonadotrópico con retraso puberal."},"it":{"name":"CDG-PGM1","definition":"È una malattia genetica congenita rara della glicosilazione e da deposito di glicogeno, caratterizzata da un'ampia gamma di segni clinici. Di solito esordisce con ugola bifida con o senza palatoschisi congenita, associata a ritardo della crescita, epatopatia con livelli elevati di aminotransferasi nel siero, miopatia (affaticamento da sforzo, intolleranza all'esercizio fisico, debolezza muscolare), ipoglicemia intermittente e cardiomiopatia dilatativa e/o arresto cardiaco, secondari ad una riduzione dell'attività della fosfoglucomutasi 1. Occasionalmente sono presenti ipertermia maligna, rabdomiolisi e ipogonadismo ipogonadrotopo associato a ritardo della pubertà."},"nl":{"name":"PGM1-CDG","synonyms":["CDG-It","CDG-syndroom type It","CDG1T","Congenitale defecten van de glycosylering type 1t","Congenitale defecten van de glycosylering type It","Congenitale glycosylatiestoornis type 1t","Congenitale glycosylatiestoornis type It","Fosfoglucomutase-1-deficiëntie","PGM1-gerelateerde congenitale glycosylatiestoornis"],"definition":"Een zeldzame, genetische, congenitale glycosylatiestoornis en glycogeenstapelingsziekte die gekarakteriseerd wordt door een breed spectrum van klinische manifestaties, en die zich doorgaans presenteert met gespleten huig met of zonder gespleten verhemelte bij de geboorte, geassocieerd met groeiachterstand, hepatopathie met verhoogde aminotransferasegehaltes in het serum, myopathie (inclusief inspanningsafhankelijke vermoeidheid, inspanningsintolerantie, spierzwakte), intermitterende hypoglycemie, en gedilateerde cardiomyopathie en/of hartstilstand, als gevolg van een verminderde enzymatische activiteit van fosfoglucomutase 1. Minder gangbare manifestaties zijn onder meer maligne hyperthermie, rabdomyolyse, en hypogonadotroop hypogonadisme met uitgestelde puberteit."},"pt":{"name":"Síndrome PGM -CDG"},"pl":{"name":"PGM1-CDG","synonyms":["CDG1t","CDG-It","Zespół CDG typu It"]},"cs":{"name":"PGM1-CDG","synonyms":["CDG syndrom, typ It","CDG-It","CDG1T"]},"uk":{"name":"PGM1-CDG","synonyms":["Синдром CDG, тип It","CDG1T","CDG-It","Вроджене порушення глікозилювання типу 1t","Вроджене порушення глікозилювання типу It","Вроджене порушення глікозилювання, повязане з PGM1","Дефіцит фосфоглюкомутази-1"],"definition":"A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty."},"zh":{"name":"PGM1基因型先天性糖基化障碍","synonyms":["PGM1基因相关性先天性糖基化障碍"],"definition":"一种罕见的遗传性先天性糖基化障碍和糖原累积病，其特征为多种临床表现，最常见的为出生时悬雍垂裂，伴或不伴腭裂，伴有生长延迟、血清转氨酶水平升高的肝病、肌病(包括运动相关疲劳、运动不耐受、肌肉无力)、间歇性低血糖、扩张性心肌病和/或心脏骤停，原因是磷酸葡萄糖变位酶1酶活性降低。不常见的表现包括恶性高热、横纹肌溶解和低促性腺激素性性腺功能减退症伴青春期延迟。"},"tr":{"name":"PGM1-CDG","synonyms":["CDG1T","CDG-It","CDG sendromu tip It","Fosfoglukomutaz-1 eksikliği","Doğumsal glikozilasyon bozukluğu tip 1t","Doğumsal glikozilasyon bozukluğu tip It","PGM1-ilişkili doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"614921","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":"index","validated":true,"icd11_uri":"1592319293"},{"source":"MONDO","code":"0013968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752015","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4329","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":711,"name":"Glycogen storage disease due to phosphoglucomutase deficiency","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371176,"name":"Congenital disorder of glycosylation with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"PGM1","name":"phosphoglucomutase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22492991[PMID]_24499211[PMID]_19625727[PMID]","hgnc":"8905","ensembl":"ENSG00000079739","omim":"171900","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":46.0,"area":"Worldwide","status":"Validated","source":"27206562[PMID]_24499211[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27206562[PMID]_24499211[PMID]"}],"phenotypes":null}