{"orpha":71277,"name":"Classic glucose transporter type 1 deficiency syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic GLUT1 deficiency syndrome","Classic GLUT1-DS","De Vivo disease","Encephalopathy due to GLUT1 deficiency"],"definition":"A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy, intellectual disability and movement disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71277/","orphanet_url":"https://www.orpha.net/en/disease/detail/71277","names":{"fr":{"name":"Syndrome de déficit en transporteur du glucose de type 1, forme classique","synonyms":["Encéphalopathie par déficit en GLUT1","GLUT1-DS, forme classique","Maladie de De Vivo","Syndrome de déficit en GLUT1, forme classique"],"definition":"Erreur innée du métabolisme rare caractérisée par une encéphalopathie due à un défaut de transport du glucose vers les cellules neurales. Les manifestations cliniques les plus fréquentes sont épilepsie, déficience intellectuelle et troubles du mouvement."},"de":{"name":"Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom","synonyms":["De Vivo-Krankheit","Enzephalopathie durch GLUT1-Defekt","GLUT1-Defekt, klassisch","GLUT1-Defizienz-Syndrom, klassische Form","Glut1-DS"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine Enzephalopathie aufgrund eines gestörten Glukosetransports in die Nervenzellen gekennzeichnet ist. Die häufigsten klinischen Manifestationen sind Epilepsie, Intelligenzminderung und Bewegungsstörung."},"es":{"name":"Síndrome de deficiencia del transportador de glucosa tipo 1 clásico","synonyms":["Encefalopatía por deficiencia de GLUT1","Enfermedad de De Vivo","Síndrome de deficiencia de GLUT1 clásico"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por encefalopatía debida a un transporte deficiente de glucosa a las neuronas. Las manifestaciones clínicas más frecuentes son epilepsia, discapacidad intelectual y trastornos del movimiento."},"it":{"name":"Encefalopatia da deficit di GLUT1","synonyms":["Deficit dei trasportatori del glucosio, tipo 1","Glut1-DS","Malattia di De Vivo","Sindrome da deficit di Glut-1"]},"nl":{"name":"Klassiek glucosetransporter type 1-deficiëntie-syndroom","synonyms":["Encefalopathie door GLUT1-deficiëntie","Klassiek GLUT1-DS","Klassiek GLUT1-deficiëntie-syndroom","Ziekte van De Vivo"],"definition":"Een zeldzame aangeboren stofwisselingsziekte, gekenmerkt door encefalopathie als gevolg van verstoord transport van glucose in zenuwcellen. De meest frequente klinische manifestaties zijn epilepsie, intellectuele achterstand en bewegingsstoornis."},"pt":{"name":"Síndrome de deficiência de transportador da glucose tipo 1 clássico","synonyms":["Encefalopatia por deficiência de GLUT1"],"definition":"Erro inato do metabolismo raro, caracterizado por encefalopatia devido ao transporte deficiente de glucose para o interior das células neuronais. As manifestações clínicas mais frequentes são epilepsia, perturbação do desenvolvimento intelectual e doença do movimento."},"pl":{"name":"Encefalopatia spowodowana niedoborem GLUT1","synonyms":["Choroba De Vivo","Glut1-DS","Niedobór transportera glukozy typu 1","Zespół niedoboru Glut-1"]},"cs":{"name":"Encefalopatie způsobená deficitem GLUT1","synonyms":["De Vivova nemoc","Deficit glukózového transportéru, typ 1","Syndrom deficitu Glut-1","Glut1-DS"]},"uk":{"name":"Класичний синдром дефіциту транспортера глюкози 1-го типу","synonyms":["Класичний синдром дефіциту GLUT1","Класичний GLUT1-DS","Захворювання de Vivo","Енцефалопатія внаслідок дефіциту GLUT1"],"definition":"A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy, intellectual disability and movement disorder."},"zh":{"name":"经典型葡萄糖转运体1缺乏综合征","synonyms":["GLUT1缺乏所致脑病"]},"tr":{"name":"Klasik glukoz taşıyıcı tip 1 eksikliği sendromu","synonyms":["De Vivo hastalığı","Klasik GLUT1-DS","Klasik GLUT1 eksikliği sendromu","GLUT1 eksikliğine bağlı ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"606777","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C61.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1231079185"},{"source":"MONDO","code":"0011724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551966","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2816,"name":"Spastic paraplegia-epilepsy-intellectual disability syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79178,"name":"Glucose transport disorder","classifications":[150,156]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC2A1","name":"solute carrier family 2 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301603[PMID]_23890838[PMID]","hgnc":"11005","ensembl":"ENSG00000117394","omim":"138140","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Norway","status":"Validated","source":"32913944[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.11,"area":"Australia","status":"Validated","source":"16712556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.538,"area":"Worldwide","status":"Validated","source":"ORPHANET_32913944[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Denmark","status":"Validated","source":"26537434[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-12","source":"17718830[PMID]_15132717[PMID]_19304421[PMID]_NBK1430[PMID]_20063428[PMID]","terms":[{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011972","label":"Hypoglycorrhachia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007308","label":"Extrapyramidal dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007704","label":"Paroxysmal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}