{"orpha":443811,"name":"PGM3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to PGM3 deficiency","Combined immunodeficiency due to PGM3 deficiency","PGM3-related congenital disorder of glycosylation"],"definition":"A rare congenital disorder of glycosylation caused by mutations in the <i>PGM3</i> gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443811/","orphanet_url":"https://www.orpha.net/en/disease/detail/443811","names":{"fr":{"name":"PGM3-CDG","synonyms":["Anomalie congénitale de la glycosylation associée à PGM3","CID par déficit en PGM3","Déficit immunitaire combiné par déficit en PGM3"],"definition":"Anomalie congénitale rare de la glycosylation due à des mutations du gène <i>PGM3</i> et caractérisée par l'apparition, pendant la période néonatale ou infantile, d'infections virales et bactériennes récurrentes, de maladies cutanées inflammatoires, de dermatite atopique et de terrain atopique, ainsi que par une nette augmentation des IgE sériques. Un trouble neurologique précoce est manifeste, à type de retard de développement, de déficience intellectuelle, d'ataxie, de dysarthrie, de perte neurosensorielle, de myoclonie et de crises convulsives."},"de":{"name":"PGM3-CDG","synonyms":["CID durch PGM3-Mangel","Immundefekt, kombinierter, durch PGM3-Mangel","PGM3-abhängige kongenitale Glykosylierungs-Krankheit"],"definition":"PGM3-CDG ist eine seltene angeborene Störung der Glykosylierung mit angeborener oder sich im Kindesalter manifestierenden wiederkehrenden bakteriellen und viralen Infektionen, entzündliche Hautkrankheiten, atopische Dermatitis und atopische Diathesen sowie einen deutlichen Anstieg des Serum-IgE. Eine frühe neurologische Beeinträchtigung ist vorhanden, einschließlich Entwicklungsverzögerung, geistiger Retardierung, Ataxie, Dysarthrie, sensorineuraler Schwerhörigkeit, Myoklonus und Krampfanfälle. PGM3-CDG wird durch Mutationen im PGM3-Gen verursacht."},"es":{"name":"PGM3-CDG","synonyms":["IDC por deficiencia de PGM3","Inmunodeficiencia combinada por deficiencia de PGM3","Trastorno congénito de la glicosilación asociado a PGM3","Trastorno congénito de la glicosilación asociado al gen PGM3"],"definition":"PGM3-CDG, es un trastorno congénito y poco frecuente de glicosilación, causado por mutaciones en el gen <i>PGM3</i>, y caracterizado por un inicio neonatal e infantil de infecciones recurrentes, bacterianas y víricas, enfermedades inflamatorias de la piel, dermatitis y diátesis atópicas, con aumento marcado de IgE sérica. El deterioro neurológico temprano resulta evidente, incluyendo retraso del desarrollo, discapacidad intelectual, ataxia, disartria, pérdida auditiva neurosensorial, mioclono y convulsiones."},"it":{"name":"PGM3-CDG","synonyms":["CID da deficit di PGM3","Disturbo congenito della glicosilazione PGM3-correlato","Immunodeficienza combinata da deficit di PGM3"],"definition":"La PGM3-CDG è una malattia congenita rara della glicosilazione, causata da mutazioni nel gene<i>PGM3</i>, che esordisce nel periodo neonatale o infantile con infezioni batteriche e virali ricorrenti, malattia infiammatoria della cute, dermatite e diatesi atopica, e livelli molto elevati di IgE nel siero. I pazienti presentano una compromissione neurologica precoce, che comprende il ritardo dello sviluppo, la disabilità intellettiva, l'atassia, la disartria, la sordità neurosensoriale, il mioclono e le crisi epilettiche."},"nl":{"name":"PGM3-CDG","synonyms":["CID als gevolg van PGM3-deficiëntie","Gecombineerde immuundeficiëntie als gevolg van PGM3-deficiëntie","PGM3-gerelateerde congenitale glycosylatiestoornis"],"definition":"PGM3-CDG is een zeldzame congenitale glycosylatiestoornis die veroorzaakt wordt door mutaties in het gen <i>PGM3</i>, en die gekarakteriseerd wordt door aanvang in de neonatale periode tot de kindertijd van recurrente bacteriële en virale infecties, inflammatoire huidziekten, atopische dermatitis en atopische diathesen, en duidelijke toename van IgE in het serum. Er is duidelijk sprake van vroege neurologische aantasting, waaronder ontwikkelingsachterstand, intellectuele achterstand, ataxie, dysartrie, sensorineuraal gehoorverlies, myoclonus en insulten."},"pt":{"name":"PGM3-CDG","synonyms":["CID devido a deficiência PGM3","Glicogenose PGM3-relacionada","Imunodeficiência combinada devido a deficiência PGM3"]},"pl":{"name":"PGM3-CDG","synonyms":["CID spowodowany niedoborem PGM3","Wrodzone zaburzenie glikozylazji zależne od PGM3","Złożony zespół niedoboru odporności spowodowany deficytem PGM3"],"definition":"*PGM3-CDG jest rzadkim wrodzonym zaburzeniem glikozylacji spowodowanym mutacjami w genie PGM3 ; charakteryzuje się nawracającymi infekcjami bakteryjnymi i wirusowymi, chorobami zapalnymi skóry, atopowym zapaleniem skóry i atopowymi wybroczynami oraz podwyższonym poziomem IgE w surowicy. Wcześnie pojawiające się zaburzenia neurologiczne obejmują opóźnienie rozwoju, niepełnosprawność intelektualną, ataksję, dyzartrię, niedosłuch zmysłowo-nerwowy, mioklonie i drgawki."},"cs":{"name":"PGM3-CDG","synonyms":["CID zpusobená deficitem PGM3","PGM3-vázaná vrozená porucha glykosylace","CID způsobená deficitem PGM3","Kombinovaná imunodeficience způsobená deficitem PGM3"]},"uk":{"name":"PGM3-CDG","synonyms":["КІД через дефіцит PGM3","Комбінований імунодефіцит внаслідок дефіциту PGM3","Вроджене порушення глікозилювання, повязане з PGM3"],"definition":"A rare congenital disorder of glycosylation caused by mutations in the <i>PGM3</i> gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures."},"zh":{"name":"PGM3突变所致先天性糖基化障碍","synonyms":["PGM3相关先天性糖基化异常"],"definition":"PGM3-CDG是一种罕见的先天性糖基化疾病，由 PGM3 基因的突变引起，其特征是新生儿至儿童期反复发作的细菌和病毒感染，炎症性皮肤病，特应性皮炎和特应性糖尿病，并且明显血清IgE升高。明显的早期神经系统损害包括发育迟缓，智力障碍，共济失调，构音障碍，感觉神经性听力减退，肌阵挛和癫痫发作。"},"tr":{"name":"PGM3-CDG","synonyms":["PGM3 eksikliği nedeniyle CID","PGM3 eksikliğine bağlı kombine immün yetmezlik","PGM3-ilişkili doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"615816","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":"0014353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014371","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4331","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":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PGM3","name":"phosphoglucomutase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24589341[PMID]_24931394[PMID]","hgnc":"8907","ensembl":"ENSG00000013375","omim":"172100","loci":["6q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"24698316[PMID]_24589341[PMID]_24931394[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24698316[PMID]_24589341[PMID]_24931394[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-23","source":"24931394[PMID]_31095764[PMID]_24698316[PMID]_24589341[PMID]_14981714[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031402","label":"Reduced antigen-specific T cell proliferation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200029","label":"Vasculitis in the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031394","label":"Abnormal CD4:CD8 ratio","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031393","label":"Abnormal proportion of CD8 T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003193","label":"Allergic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040148","label":"Cortical myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004789","label":"Lactose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000793","label":"Membranoproliferative glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008587","label":"Mild neurosensory hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040218","label":"Reduced natural killer cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004430","label":"Severe combined immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null}]}}