{"orpha":35710,"name":"Glucose-galactose malabsorption","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CGGM","Congenital glucose-galactose malabsorption","GGM","SGLT1 deficiency"],"definition":"A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35710/","orphanet_url":"https://www.orpha.net/en/disease/detail/35710","names":{"fr":{"name":"Malabsorption du glucose-galactose","synonyms":["Déficit en SGLT1","Malabsorption congénitale du glucose-galactose"],"definition":"Trouble rare et potentiellement létal du métabolisme, d'origine autosomique récessif, caractérisé par un trouble de l'absorption du glucose et du galactose entraînant une diarrhée aqueuse sévère et une déshydratation à début néonatal."},"de":{"name":"Glukose-Galaktose-Malabsorption","synonyms":["CGGM","GGM","Kongenitale Glukose-Galaktose-Malabsorption","SGLT1-Defizienz"],"definition":"Eine potenziell tödliche genetisch bedingte Stoffwechselerkrankung, die durch eine gestörte Glukose-Galaktose-Absorption gekennzeichnet ist. Sie beginnt in der Neugeborenenperiode und führt zu schwerem wässrigem Durchfall und Dehydrierung."},"es":{"name":"Malabsorción de glucosa-galactosa","synonyms":["CGGM","Deficiencia de SGLT1","GGM","MGG","Malabsorción congénita de glucosa-galactosa"],"definition":"Es una enfermedad metabólica autosómica recesiva, poco frecuente y potencialmente letal, caracterizada por una absorción deficiente de glucosa-galactosa que produce diarrea acuosa grave y deshidratación de inicio en el período neonatal."},"it":{"name":"Malassorbimento di glucosio-galattosio","synonyms":["CGGM","Malassorbimento congenito di glucosio-galattosio","GGM","Deficit di SGLT1"],"definition":"Il malassorbimento di glucosio-galattosio (GGM) è una malattia metabolica molto rara, potenzialmente letale, di origine genetica, caratterizzata dalla compromissione dell'assorbimento del glucosio-galattosio, che causa grave diarrea acquosa e disidratazione ad esordio nel periodo neonatale."},"nl":{"name":"Glucose-galactosemalabsorptie","synonyms":["CGGM","Congenitale glucose-galactosemalabsorptie","GGM","SGLT1-deficiëntie"],"definition":"Een zeldzame, potentieel dodelijke, autosomaal recessieve metabole aandoening, gekenmerkt door verstoorde absorptie van glucose-galactose, wat leidt tot ernstige, waterige diarree en dehydratie met aanvang in de neonatale periode."},"pt":{"name":"Má absorção de glucose-galactose","definition":"Doença metabólica autossómica recessiva rara e potencialmente letal, caracterizada pela absorção prejudicada de glicose-galactose, resultando em diarreia aquosa grave e desidratação com início no período neonatal."},"pl":{"name":"Zaburzenia wchłaniania glukozy i galaktozy","synonyms":["Niedobór SGLT1"],"definition":"Rzadka, potencjalnie śmiertelna, genetycznie uwarunkowana choroba metaboliczna o początku w okresie noworodkowym, która charakteryzuje się upośledzonym wchłanianiem glukozy-galaktozy, co skutkuje ciężką wodnistą biegunką i odwodnieniem."},"cs":{"name":"Malabsorpce glukózy a galaktózy","synonyms":["Deficit SGLT1"]},"uk":{"name":"Глюкозо-галактозна мальабсорбція","synonyms":["Дефіцит SGLT1"],"definition":"A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period."},"zh":{"name":"葡葡糖-半乳糖吸收不良症","synonyms":["SGLT1缺乏症"]},"tr":{"name":"Glukoz-galaktoz malabsorpsiyonu","synonyms":["SGLT1 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"606824","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C61.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2108415931"},{"source":"MONDO","code":"0011731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268186","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104003,"name":"Congenital intestinal transport defect","classifications":[152,156,233]},{"orpha":79178,"name":"Glucose transport disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC5A1","name":"solute carrier family 5 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"8563765[PMID]_12139397[PMID]","hgnc":"11036","ensembl":"ENSG00000100170","omim":"182380","loci":["22q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22843301[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"France","status":"Validated","source":"23107089[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-14","source":"32946683[PMID]_20486940[PMID]","terms":[{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033310","label":"Osmotic diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003228","label":"Hypernatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030143","label":"Hyperactive bowel sounds","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very rare (<4-1%)","criteria":null}]}}