{"orpha":79258,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["G6P deficiency type 1a","GSD due to G6P deficiency type 1a","GSD due to G6P deficiency type Ia","GSD type 1a","GSDIa","Glycogen storage disease due to G6P deficiency type Ia","Glycogen storage disease type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type Ia","Glycogenosis type Ia"],"definition":null,"note":"This disease is described under Glycogen storage disease due to glucose-6-phosphatase deficiency","url":"https://raremap.alftech.space/d/ORPHA-79258/","orphanet_url":"https://www.orpha.net/en/disease/detail/79258","names":{"fr":{"name":"Glycogénose par déficit en glucose-6-phosphatase de type Ia","synonyms":["Déficit en G6P type Ia","GSD type 1a","GSD type Ia","GSDIa","Glycogénose 1a","Glycogénose Ia","Glycogénose type 1a","Glycogénose type Ia"]},"de":{"name":"Glykogenose Typ 1a","synonyms":["G6PE-Mangel Typ 1a","GSD Typ 1a","GSD Typ Ia","GSD durch Glukose-6-Phosphatase-Mangel Typ 1a","GSD-Mangel Typ 1a","Glykogen-Speicherkrankheit Typ 1a","Glykogen-Speicherkrankheit Typ Ia","Glykogen-Speicherkrankheit durch Glukose-6-Phosphatase-Mangel Typ 1a","Glykogenose Typ Ia","Glykogenose durch Glukose-6-Phosphatase-Mangel Typ Ia"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo Ia","synonyms":["Deficiencia de G6P tipo Ia","Enfermedad por almacenamiento de glucógeno por deficiencia de G6P tipo Ia","Enfermedad por almacenamiento de glucógeno tipo 1a","GSD por deficiencia de G6P tipo 1a","GSD por deficiencia de G6P tipo Ia","GSD tipo 1a","GSDIa","Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo 1a","Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo Ia","Glucogenosis tipo Ia"]},"it":{"name":"Glicogenosi da deficit di glucosio-6-fosfatasi, tipo a","synonyms":["Deficit di G6P, tipo a","GSD ad deficit di G6P, tipo a","GSD, tipo 1a","GSDIa","Glicogenosi Ia","Glicogenosi, tipo Ia","Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo a","Malattia da deposito di glicogeno, tipo 1a"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type Ia","synonyms":["G6P-deficiëntie type 1a","GSD door G6P-deficiëntie type 1a","GSD door G6P-deficiëntie type Ia","GSD type 1a","GSDIa","Glycogeenstapelingsziekte door G6P-deficiëntie type 1a","Glycogeenstapelingsziekte type 1a","Glycogenose door deficiëntie van glucose-6-fosfatase type 1a","Glycogenose door deficiëntie van glucose-6-fosfatase type Ia","Glycogenose type Ia"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de glucose-6-fosfatase tipo 1A"},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru glukozo-6-fosfatazy typu a","synonyms":["Choroba spichrzania glikogenu z powodu niedoboru G6P typu a","Choroba spichrzania glikogenu typu 1a","Glikogenoza typu Ia","Glikogenoza z powodu niedoboru glukozo-6-fosfatazy typu a","GSD typu 1a","GSD z powodu niedoboru G6P typu a","GSDIa","Niedobór G6P typu a"]},"cs":{"name":"Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ Ia","synonyms":["Deficit G6P, typ Ia","GSD typ 1a","GSDIa","Glykogenóza, typ 1a","Glykogenóza, typ Ia","GSD způsobená deficitem G6P, typ 1a","GSD způsobená deficitem G6P, typ Ia","Glykogenóza způsobená deficitem G6P, typ Ia","Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ 1a"]},"uk":{"name":"Дефіцит глікогену внаслідок дефіциту глюкозо-6-фосфатази, тип Ia","synonyms":["Дефіцит G6P, тип 1a","Дефіцит глікогену внаслідок дефіциту G6P, тип Ia","Глікогенова хвороба, тип 1а","Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу 1а","Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу Ia","Глікогеноз Ia типу","GSD внаслідок дефіциту G6P, тип 1a","GSD внаслідок дефіциту G6P, тип Ia","GSD тип 1a","GSDIa"],"definition":"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, 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1a型","synonyms":["葡糖-6-磷酸酶缺乏所致糖原病Ia型"]},"tr":{"name":"Glukoz-6-fosfataz eksikliği tip Ia'ya bağlı glikojen depo hastalığı","synonyms":["GSDIa","GSD tipi 1a","Glikojenoz tip Ia","G6P eksikliği tip 1a","Glikojen depo hastalığı tip 1a","G6P eksikliği tip 1a nedeniyle GSD","G6P eksikliği tip Ia nedeniyle GSD","G6P eksikliği tip Ia'ya bağlı glikojen depo hastalığı","Glikoz-6-fosfataz eksikliğine bağlı glikojenoz tip 1a","Glikoz-6-fosfataz eksikliği tip Ia'ya bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232200","qualifier":"E","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":"index","validated":true,"icd11_uri":"377675277"},{"source":"MONDO","code":"0009287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2919796","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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]}],"children":[],"genes":[{"symbol":"G6PC1","name":"glucose-6-phosphatase catalytic subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4056","ensembl":"ENSG00000131482","omim":"613742","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Israel","status":"Validated","source":"33239050[PMID]"}],"phenotypes":null}