Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease BEFREE A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect. 30076047 2019
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease BEFREE No significant differences were found in terms of type of movement disorder, whilst Paroxysmal Exertion-induced Dyskinesia (PED) is confirmed to be the most characteristic movement disorder type in GLUT1DS. 25564316 2015
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 CausalMutation disease CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116 2014
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease BEFREE A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular, patients with movement disorders, but without seizures, with paroxysmal exertion-induced dyskinesia, have been reported. 21962875 2012
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease BEFREE GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia. 21229316 2011
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease BEFREE We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. 20425035 2010
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801 2010
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075 2009
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. 18451999 2008
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease UNIPROT GLUT-1 deficiency without epilepsy--an exceptional case. 14605501 2003
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease GENOMICS_ENGLAND Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 CausalMutation disease CLINVAR Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GeneticVariation disease CLINVAR
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 Biomarker disease CTD_human
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
0.750 GermlineCausalMutation disease ORPHANET