{"orpha":2088,"name":"Fanconi-Bickel syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to GLUT2 deficiency","Glycogen storage disease due to GLUT2 deficiency","Glycogenosis due to GLUT2 deficiency"],"definition":"A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2088/","orphanet_url":"https://www.orpha.net/en/disease/detail/2088","names":{"fr":{"name":"Syndrome de Fanconi-Bickel","synonyms":["GSD par déficit en GLUT2","Glycogénose par déficit en GLUT2"],"definition":"Maladie rare de stockage du glycogène due à une carence en soluté de la famille des transporteurs 2, membre 2 des transporteurs de glucose facilité et caractérisée par une accumulation hépatorénale de glycogène entraînant un dysfonctionnement tubulaire rénal grave et une altération du métabolisme du glucose et du galactose."},"de":{"name":"Fanconi-Bickel-Syndrom","synonyms":["GSD durch GLUT2-Mangel","Glykogen-Speicherkrankheit durch GLUT2-Mangel","Glykogenose durch GLUT2-Mangel"],"definition":"Eine seltene Glykogenspeicherkrankheit, die gekennzeichnet ist durch eine hepatorenale Glykogenakkumulation, die zu einer schweren renalen tubulären Dysfunktion und einem gestörten Glukose- und Galaktosestoffwechsel führt."},"es":{"name":"Síndrome de Fanconi-Bickel","synonyms":["Enfermedad por almacenamiento de glucógeno por deficiencia de GLUT2","GSD por deficiencia de GLUT2","Glucogenosis por deficiencia de GLUT2"],"definition":"Es una enfermedad por almacenamiento de glucógeno poco frecuente debida a una deficiencia de la familia de transportadores de soluto 2, miembro 2 facilitador del transporte de glucosa y caracterizada por un acúmulo de glucógeno hepatorrenal que conduce a una disfunción tubular renal grave con afectación del metabolismo de la glucosa y la galactosa."},"it":{"name":"Sindrome di Fanconi-Bickel","synonyms":["GSD da deficit di GLUT2","Glicogenosi da deficit di GLUT2","Malattia da deposito di glicogeno dovuta a deficit di GLUT2"],"definition":"Si tratta di una malattia rara da deposito di glicogeno causata da un deficit di <i>SLC2A2</i>; è caratterizzata da depositi di glicogeno a livello epatorenale, che causano una grave disfunzione tubulare renale e la compromissione del metabolismo del glucosio e del galattosio."},"nl":{"name":"Syndroom van Fanconi-Bickel","synonyms":["GSD door GLUT2-deficiëntie","Glycogeenstapelingsziekte door GLUT2-deficiëntie","Glycogenose door GLUT2-deficiëntie"],"definition":"Een zeldzame glycogeenstapelingsziekte als gevolg van een deficiëntie van 'solute carrier family 2, facilitated glucose transporter member 2', gekarakteriseerd door hepatorenale accumulatie van glycogeen die leidt tot ernstige renale tubulaire disfunctie en stoornissen van glucose- en galactosemetabolisme."},"pt":{"name":"Síndrome Fanconi-Bickel","synonyms":["Doença de armazenamento de glicogénio devido a deficiência GLUT2","GSD devido a deficiência GLUT2","Glicogenose devido a deficiência GLUT2"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru GLUT2","synonyms":["Choroba Fanconiego i Bickela","Glikogenoza Fanconiego i Bickela","Glikogenoza z powodu niedoboru GLUT2","GSD z powodu niedoboru GLUT2"]},"cs":{"name":"Fanconiho-Bickelův syndrom","synonyms":["Bickelova-Fanconiho glykogenóza","Fanconiho-Bickelova choroba","GSD typ 11","GSD typ XI","Glykogenóza, typ 11","Glykogenóza, typ XI","GSD způsobená deficitem GLUT2","Glykogenóza způsobená GLUT2 deficitem","Bickel-Fanconiho glykogenóza","Fanconi-Bickelova choroba"]},"uk":{"name":"Синдром Фанконі-Бікеля","synonyms":["Хвороба накопичення глікогену через дефіцит GLUT2","Глікогеноз внаслідок дефіциту GLUT2","GSD через дефіцит GLUT2"],"definition":"A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism."},"zh":{"name":"Fanconi-Bickel综合征","synonyms":["GLT2缺乏所致糖原病"]},"tr":{"name":"Fanconi-Bickel Sendromu","synonyms":["GSD tip 11","GSD tip XI","GLUT2 eksikliğine bağlı GSD","Glikojen depo hastalığı tip 11","Glikojen depo hastalığı tip XI","GLUT2 eksikliğine bağlı glikojenoz","GLUT2 eksikliğine bağlı glikojen depo hali"]}},"xrefs":[{"source":"OMIM","code":"227810","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":"426701963"},{"source":"MONDO","code":"0009216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495427","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2268","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79178,"name":"Glucose transport disorder","classifications":[150,156]},{"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":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"SLC2A2","name":"solute carrier family 2 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21327337[PMID]_22865906[PMID]","hgnc":"11006","ensembl":"ENSG00000163581","omim":"138160","loci":["3q26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"11949937[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-15","source":"29624224[PMID]_30950137[PMID]","terms":[{"hpo":"HP:0500030","label":"Abnormal hepatic glycogen storage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004919","label":"Galactose intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040270","label":"Impaired glucose tolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006568","label":"Increased hepatic glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002909","label":"Generalized aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000295","label":"Doll-like facies","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}