{"orpha":79259,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["G6P deficiency type Ib","G6P translocase deficiency","G6PT deficiency","GSD due to G6P deficiency type 1b","GSD due to G6P deficiency type Ib","GSD due to G6PT deficiency","GSD type 1 non a","GSD type 1b","GSD type Ib","GSDIb","Glycogen storage disease due to G6P deficiency type Ib","Glycogen storage disease type 1b","Glycogen storage disease type Ib","Glycogenosis due to glucose-6-phosphatase deficiency type 1b","Glycogenosis due to glucose-6-phosphatase transport defect type Ib","Glycogenosis type 1b","Glycogenosis type Ib"],"definition":null,"note":"This disease is described under Glycogen storage disease due to glucose-6-phosphatase deficiency","url":"https://raremap.alftech.space/d/ORPHA-79259/","orphanet_url":"https://www.orpha.net/en/disease/detail/79259","names":{"fr":{"name":"Glycogénose par déficit en glucose-6-phosphatase de type Ib","synonyms":["Déficit en G6P translocase","Déficit en G6P type Ib","Déficit en G6PT type Ib","GSD type 1b","GSDIb","Glycogénose par défaut de transport du glucose-6-phosphatase type 1b","Glycogénose type 1 non a","Glycogénose type 1b","Glycogénose type Ib"]},"de":{"name":"Glykogenose Typ 1b","synonyms":["G6P-Mangel Typ 1b","G6P-Translokase-Mangel","G6PT-Mangel","GSD Typ 1 (nicht a)","GSD Typ 1b","GSD Typ Ib","GSD durch G6P-Mangel Typ Ib","Glykogen-Speicherkrankheit Typ 1b","Glykogen-Speicherkrankheit Typ Ib","Glykogenose Typ Ib","Glykogenose durch Glukose-6-Phosphatase-Mangel Typ 1b","Glykogenose durch Glukose-6-Phosphatase-Transporterdefekt Typ Ib"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo Ib","synonyms":["Deficiencia de G6P tipo Ib","Deficiencia de G6P translocasa","Deficiencia de G6PT","Enfermedad de almacenamiento de glucógeno por deficiencia de G6P tipo Ib","Enfermedad de almacenamiento de glucógeno tipo 1b","Enfermedad de almacenamiento de glucógeno tipo Ib","GSD por deficiencia de G6P tipo 1b","GSD por deficiencia de G6P tipo Ib","GSD por deficiencia de G6PT","GSD tipo 1 no a","GSD tipo 1b","GSD tipo Ib","GSDIb","Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo 1b","Glucogenosis por un defecto en el transporte de la glucosa-6-fosfatasa tipo Ib","Glucogenosis tipo 1b","Glucogenosis tipo Ib"]},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di glucosio-6-fosfatasi, tipo b","synonyms":["Deficit di G6P traslocasi","Deficit di G6P, tipo b","Deficit di G6PT","GSD da deficit di G6P, tipo b","GSD da deficit di G6PT","GSD da deficit diG6PT","GSD, tipo 1 non-a","GSD, tipo 1b","GSDIb","Glicogenosi Ib","Glicogenosi da deficit di glucosio-6-fosfatasi, tipo b","Glicogenosi da difetto del trasporto di glucosio-6-fosfatasi","Glicogenosi, tipo Ib","Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo b","Malattia da deposito di glicogeno, tipo 1b"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type 1b","synonyms":["Glycogenose door deficiëntie van glucose-6-fosfatase type Ib","Glycogenose door transportdefect van glucose-6-fosfatase type Ib","Glycogenose type 1b","Glycogenose type Ib","Deficiëntie van G6P-translocase","G6P-deficiëntie type Ib","G6PT-deficiëntie","GSD door G6P-deficiëntie type Ib","GSD door G6PT-deficiëntie","GSD type 1 niet-a","GSD type 1b","GSD type Ib","GSD-1b","GSDIb","Glycogeenstapelingsziekte door G6P-deficiëntie type Ib","Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type Ib","Glycogeenstapelingsziekte type 1b","Glycogeenstapelingsziekte type Ib","Glycogenose door deficiëntie van glucose-6-fosfatase type 1b"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de glucose-6-fosfatase tipo 1B"},"pl":{"name":"Choroba spichrzania glikogenu typu wywołana niedoborem glukozo-6-fosfatazy typu 1b","synonyms":["Choroba spichrzania glikogenu typu 1b","Choroba spichrzania glikogenu z powodu niedoboru G6P typu b","Glikogenoza typu Ib","Glikogenoza z powodu defektu transportera glukozo-6-fosfatazy","Glikogenoza z powodu niedoboru glukozo-6-fosfatazy typu b","GSD typu 1 nie a","GSD typu 1b","GSD z powodu niedoboru G6P typu b","GSD z powodu niedoboru G6PT","GSDIb","Niedobór G6P typu b","Niedobór G6PT","Niedobór translokazy G6P"]},"cs":{"name":"Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ Ib","synonyms":["Deficit G6P, typ Ib","Deficit G6P translokázy","Deficit G6PT","GSD typ 1 non-a","GSD typ 1b","GSD typ Ib","GSDIb","Glykogenóza, typ 1b","Glykogenóza, typ Ib","GSD způsobená deficitem G6P, typ Ib","GSD způsobená deficitem G6PT","Glykogenóza způsobená deficitem G6P, typ Ib","Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ 1b","Glykogenóza způsobená poruchou transportu glukóza-6-fosfatázy, typ Ib"]},"uk":{"name":"Дефіцит глікогену внаслідок дефіциту глюкозо-6-фосфатази, тип Ib","synonyms":["Дефіцит G6P, тип Ib","Дефіцит транслокази G6P","Дефіцит G6PT","Дефіцит глікогену внаслідок дефіциту G6P, тип Ib","Глікогенова хвороба накопичення, тип 1b","Хвороба накопичення глікогену типу Ib","Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу 1b","Глікогеноз внаслідок дефекту транспорту глюкозо-6-фосфатази типу Ib","Глікогеноз типу 1b","Глікогеноз типу Ib","GSD внаслідок дефіциту G6P, тип 1b","GSD внаслідок дефіциту G6P, тип Ib","GSD через дефіцит G6PT","GSD тип 1 non a","GSD тип 1b","GSD тип Ib","GSDIb"],"definition":"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)."},"zh":{"name":"葡糖-6-磷酸酶缺乏所致糖原贮积症1b型","synonyms":["葡糖-6-磷酸酶缺乏所致糖原病1b型"]},"tr":{"name":"Glukoz-6-fosfataz eksikliği tip Ib'ye bağlı glikojen depo hastalığı","synonyms":["Glikoz-6-fosfataz taşıma defekti tip Ib'ye ​​bağlı glikojenoz","GSDIb","GSD tipi 1b","GSD türü Ib","G6PT eksikliği","GSD tip 1 non a","Glikojenoz tip 1b","Glikojenoz tip Ib","G6P eksikliği tipi Ib","G6P translocase eksikliği","G6PT eksikliği nedeniyle GSD","Glikojen depo hastalığı tip 1b","Glikojen depo hastalığı tip Ib","G6P eksikliği tip 1b nedeniyle GSD","G6P eksikliği tip Ib'ye ​​bağlı GSD","G6P eksikliği tip Ib'ye ​​bağlı glikojen depo hastalığı","Glikoz-6-fosfataz eksikliği tip 1b'ye bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232220","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"232240","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009288","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268146","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2515","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79260,"name":"Glycogen storage disease type 1c","status":"inactive"},{"type":"Moved to","orpha":79261,"name":"Glycogen storage disease type 1d","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":364,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency","classifications":[150,156,183,188,233]},{"orpha":717874,"name":"Rare inborn error of metabolism with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"SLC37A4","name":"solute carrier family 37 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4061","ensembl":"ENSG00000137700","omim":"602671","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"23351985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Specific population","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Israel","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-03","source":"30480935[PMID]_31705665[PMID]_20301489[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006568","label":"Increased hepatic glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010974","label":"Abnormal myeloid leukocyte morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410252","label":"Chronic neutropenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100279","label":"Ulcerative colitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012146","label":"Abnormality of von Willebrand factor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004387","label":"Enterocolitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011890","label":"Prolonged bleeding following procedure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005576","label":"Tubulointerstitial fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001114","label":"Xanthelasma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null}]}}