{"orpha":364,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["G6P deficiency","GSD due to G6P deficiency","GSD type 1","GSD type I","Glycogen storage disease due to G6P deficiency","Glycogen storage disease type 1","Glycogen storage disease type I","Glycogenosis type 1","Glycogenosis type I","Hepatorenal glycogenosis","Von Gierke disease"],"definition":"A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364/","orphanet_url":"https://www.orpha.net/en/disease/detail/364","names":{"fr":{"name":"Glycogénose par déficit en glucose-6-phosphatase","synonyms":["Déficit en G6P","GSD type 1","GSD type I","Glycogénose hépato-rénale","Glycogénose type 1","Glycogénose type I","Maladie de von Gierke"],"definition":"Maladie métabolique héréditaire rare (comprenant deux sous-types majeurs : type Ia et type Ib) caractérisée par une faible tolérance au jeûne, un retard de croissance et une hépatomégalie par accumulation de glycogène et de graisse dans le foie."},"de":{"name":"Glykogenose Typ 1","synonyms":["G6P-Mangel","GSD Typ 1","GSD Typ I","GSD durch G6P-Mangel","Glukose-6-Phosphatase-Mangel","Glukose-6-Phosphatase-Translokase-Mangel","Glykogen-Speicherkrankheit Typ 1","Glykogen-Speicherkrankheit Typ I","Glykogen-Speicherkrankheit durch Glukose-6-Phosphatase-Mangel","Glykogenose, hepatorenale","Von-Gierke-Krankheit"],"definition":"Eine seltene vererbte Stoffwechselerkrankung, die in zwei Subtypen unterteilt wird (Typ Ia und Ib). Die Störung ist durch eine schlechte Fastentoleranz, Wachstumsverzögerung und Hepatomegalie infolge einer Anhäufung von Glykogen und Fett in der Leber gekennzeichnet."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa","synonyms":["Deficiencia de G6P","Enfermedad de Von Gierke","Enfermedad de almacenamiento de glucógeno por deficiencia de G6P","Enfermedad de almacenamiento de glucógeno tipo 1","Enfermedad de almacenamiento de glucógeno tipo I","GSD por deficiencia de G6P","GSD tipo 1","GSD tipo I","Glucogenosis hepatorrenal","Glucogenosis tipo 1","Glucogenosis tipo I"],"definition":"Es una enfermedad metabólica hereditaria poco frecuente (que comprende dos subtipos principales: tipo Ia y Ib) caracterizada por mala tolerancia al ayuno, retraso del crecimiento y hepatomegalia resultante del acúmulo de glucógeno y grasa en el hígado"},"it":{"name":"Malattia da deposito di glicogeno da deficit di glucosio-6-fosfatasi","synonyms":["Deficit di G6P","GSD da deficit di G6P","GSD, tipo 1","Glicogenosi epatorenale","Glicogenosi, tipo 1","Malattia da deposito di glicogeno da deficit di G6P","Malattia da deposito di glicogeno, tipo 1","Malattia di von Gierke"],"definition":"La glicogenosi da deficit di glucosio-6-fosfatasi (G6P), o malattia da deposito di glicogeno (GSD) tipo 1, rappresenta un gruppo di malattie metaboliche ereditarie, compresi i tipi a e b (si vedano questi termini), caratterizzata da intolleranza al digiuno, ritardo della crescita ed epatomegalia da accumulo di glicogeno e grassi a livello del fegato."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase","synonyms":["G6P-deficiëntie","GSD door G6P-deficiëntie","GSD door deficiëntie van glucose-6-fosfatase","GSD type 1","GSD type I","Glycogeenstapelingsziekte door G6P-deficiëntie","Glycogeenstapelingsziekte type 1","Glycogeenstapelingsziekte type I","Glycogenose door deficiëntie van glucose-6-fosfatase","Glycogenose type 1","Glycogenose type I","Hepatorenale glycogenose","Ziekte van von Gierke"],"definition":"Een zeldzame, erfelijke metabole aandoening (bestaande uit twee voorname subtypes: type Ia en Ib), gekenmerkt door lage tolerantie voor vasten, groeiachterstand en hepatomegalie als gevolg van accumulatie van glycogeen en vet in de lever."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de glucose-6-fosfatase","synonyms":["Doença de Von Gierke","Glicogenose hepatorrenal","Glicogenose por deficiência de glucose-6-fosfato translocase","Glicogenose tipo 1"],"definition":"Doença metabólica hereditária rara (que compreende dois subtipos principais: tipo Ia e Ib) caracterizada por reduzida tolerância ao jejum, atraso de crescimento e hepatomegalia resultante da acumulação de glicogénio e gordura no fígado."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem glukozo-6-fosfatazy","synonyms":["Choroba spichrzania glikogenu spowodowana niedoborem G6P","Choroba spichrzania glikogenu typu 1","Choroba Von Gierke","Glikogenoza typu 1","Glikogenoza wątrobowo-nerkowa","GSD spowodowane niedoborem G6P","GSD typu 1","Niedobór G6P"]},"cs":{"name":"Glykogenóza způsobená deficitem glukóza-6-fosfatázy","synonyms":["Deficit G6P","GSD typ 1","GSD typ I","Glykogenóza, typ 1","Glykogenóza, typ I","Hepatorenální glykogenóza","Von Gierkova nemoc","GSD způsobená deficitem G6P","Glykogenóza způsobená deficitem G6P"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом глюкозо-6-фосфатази","synonyms":["Дефіцит G6P","Хвороба накопичення глікогену внаслідок дефіциту G6P","Глікогенова хвороба 1-го типу","Глікогенова хвороба I типу","Глікогеноз типу 1","Глікогеноз I типу","GSD внаслідок дефіциту G6P","GSD тип 1","GSD тип I","Гепаторенальний глікогеноз","Хвороба фон Гірке"],"definition":"A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver."},"zh":{"name":"葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症","synonyms":["葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症"]},"tr":{"name":"Glikoz-6-fosfataz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 1","GSD tip I","G6P eksikliği","Von Gierke hastalığı","Glikojenoz tip 1","Glikojenoz tip I","Hepatorenal glikojenoz","G6P eksikliğine bağlı GSD","Glikojen depo hastalığı tip 1","Glikojen depo hastalığı tip I","G6P eksikliğine bağlı glikojen depo hastalığı"]}},"xrefs":[{"source":"OMIM","code":"232200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"232220","qualifier":"BTNT","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":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"523888904"},{"source":"MONDO","code":"0002413","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017920","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018464","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":79258,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia","type":"Clinical subtype"},{"orpha":79259,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79258,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"}},{"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"],"via":{"orpha":79259,"name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"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":1.0,"area":"Worldwide","status":"Validated","source":"21599942[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","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:0001252","label":"Hypotonia","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:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Occasional (29-5%)","criteria":null}]}}