GTPS
MCID: GLC024
MIFTS: 38

Glucose Transporter Type 1 Deficiency Syndrome (GTPS)

Categories: Blood diseases, Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

MalaCards integrated aliases for Glucose Transporter Type 1 Deficiency Syndrome:

Name: Glucose Transporter Type 1 Deficiency Syndrome 25 20 43
Glut1 Deficiency Syndrome 25 20 43 36 29 6 70
De Vivo Disease 25 20 43 6
Glut1 Ds 25 20 43
Glucose Transport Defect, Blood-Brain Barrier 20 43
Encephalopathy Due to Glut1 Deficiency 20 43
Glucose Transporter Protein Syndrome 20 43
G1d 20 43
Glut-1 Deficiency Syndrome 20
Glut1 Deficiency 43
Gtps 43

Characteristics:

GeneReviews:

25
Penetrance Penetrance in glut1 ds inherited in an autosomal dominant manner is complete....

Classifications:



External Ids:

KEGG 36 H00836
UMLS 70 C1847501

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

MedlinePlus Genetics : 43 GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form.Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.

MalaCards based summary : Glucose Transporter Type 1 Deficiency Syndrome, also known as glut1 deficiency syndrome, is related to stomatin-deficient cryohydrocytosis with neurologic defects and glut1 deficiency syndrome 1, and has symptoms including ataxia, sleep disturbances and muscle spasticity. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways/superpathways are Bile secretion and Adipocytokine signaling pathway. The drugs Glycerol and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone.

GARD : 20 Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures ( epilepsy ) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the "non-epileptic" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes ( mutations ) in the SLC2A1 gene and is inherited in an autosomal dominant manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet ) may help alleviate symptoms.

KEGG : 36 GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.

Wikipedia : 73 GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1... more...

GeneReviews: NBK1430

Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

Diseases related to Glucose Transporter Type 1 Deficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 stomatin-deficient cryohydrocytosis with neurologic defects 11.5
2 glut1 deficiency syndrome 1 11.4
3 alternating hemiplegia of childhood 1 11.1
4 ataxia and polyneuropathy, adult-onset 10.6
5 movement disease 10.6
6 microcephaly 10.5
7 dystonia 10.5
8 spasticity 10.4
9 alacrima, achalasia, and mental retardation syndrome 10.4
10 paroxysmal exertion-induced dyskinesia 10.4
11 seizure disorder 10.4
12 encephalopathy 10.3
13 glut1 deficiency syndrome 2 10.3
14 early onset absence epilepsy 10.3
15 childhood absence epilepsy 10.3
16 epilepsy 10.3
17 migraine with or without aura 1 10.2
18 episodic ataxia, type 2 10.1
19 epilepsy, idiopathic generalized 10.1
20 dystonia 9 10.1
21 chorea, childhood-onset, with psychomotor retardation 10.1
22 deficiency anemia 10.1
23 alternating hemiplegia of childhood 10.1
24 metabolic acidosis 10.1
25 hemiplegia 10.1
26 choreatic disease 10.1
27 learning disability 10.1
28 episodic ataxia 10.1
29 epilepsy with myoclonic-atonic seizures 10.1
30 hypotonia 10.1
31 myoclonus 10.1
32 paroxysmal choreoathetosis 10.1
33 tremor 10.1
34 paroxysmal dyskinesia 10.1
35 infantile epilepsy syndrome 10.1
36 epilepsy, idiopathic generalized 12 10.1
37 hemolytic anemia 10.1
38 cataract 10.1
39 familial paroxysmal nonkinesigenic dyskinesia 10.0
40 tendinopathy 10.0
41 tendinitis 10.0
42 cryohydrocytosis 9.9
43 spastic diplegia and mental retardation 9.9
44 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
45 autosomal recessive disease 9.9
46 mastoiditis 9.9
47 spastic diplegia 9.9
48 conn's syndrome 9.9
49 constipation 9.9
50 hereditary spastic paraplegia 9.9

Graphical network of the top 20 diseases related to Glucose Transporter Type 1 Deficiency Syndrome:



Diseases related to Glucose Transporter Type 1 Deficiency Syndrome

Symptoms & Phenotypes for Glucose Transporter Type 1 Deficiency Syndrome

UMLS symptoms related to Glucose Transporter Type 1 Deficiency Syndrome:


ataxia; sleep disturbances; muscle spasticity; dystonia, paroxysmal

Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

Drugs for Glucose Transporter Type 1 Deficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
3
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
4
Gemcitabine Approved Phase 2 95058-81-4 60750
5 Protective Agents Phase 2
6 Tea Phase 1, Phase 2
7 Tubulin Modulators Phase 2
8 Anti-Infective Agents Phase 2
9 Albumin-Bound Paclitaxel Phase 2
10 Immunosuppressive Agents Phase 2
11 Immunologic Factors Phase 2
12 Antiviral Agents Phase 2
13 Antimitotic Agents Phase 2
14 Antimetabolites Phase 2
15
Sodium citrate Approved, Investigational Phase 1 68-04-2
16
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
17 Citrate Phase 1
18 carnitine

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Terminated NCT02960217 Phase 3 UX007;Placebo
2 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Unknown status NCT02014883 Phase 2 GLUT1 DS
3 A Controlled N-of-1 Before-and-after Study to Determine Safety and Efficacy Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Unknown status NCT02000960 Phase 2 Triheptanoin
4 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Completed NCT02036853 Phase 2 Triheptanoin
5 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Study to Assess the Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Completed NCT01993186 Phase 2 UX007;Placebo
6 Pilot Study to Assess Impact of Kuvan® Supplementation as an Adjunct Treatment in Subjects With Dominantly-inherited GTPCH Deficiency on Mood, Behavioral and Motor Phenotypes Completed NCT01425528 Phase 1, Phase 2 Sapropterin
7 GTP and Tai Chi for Bone Health: a Pilot Study Completed NCT00625391 Phase 1, Phase 2 Placebo;Green Tea Polyphenols (GTP);Placebo+Tai Chi (TC);GTP+TC
8 A Phase II Trial of Gemzar (Gemcitabine), Taxol (Paclitaxel), and Platinol (Cisplatin) (GTP) in Treatment of Advanced Transitional Cell Carcinoma of the Urothelium Completed NCT00310011 Phase 2 cisplatin;gemcitabine hydrochloride;paclitaxel
9 Effects of Sodium Lactate Infusion in Patients With Glucose Transporter 1 Deficiency Syndrome (GLUT1DS) Not yet recruiting NCT04112862 Phase 2
10 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Terminated NCT02599961 Phase 2 UX007
11 Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency Withdrawn NCT02021526 Phase 1, Phase 2 Triheptanoin
12 Evaluation of Safety, Feasibility and Treatment Potential for Old Stroke Patients Using Intracerebral Implantation of Olfactory Ensheathing Cells Unknown status NCT01327768 Phase 1
13 Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B) Completed NCT02018315 Phase 1 Triheptanoin
14 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Unknown status NCT03722212
15 A Randomized Controlled Trial of Ultrasound-guided Platelet-Rich-Plasma (PRP) Injection Versus Extracorporeal Shock Wave Therapy (ESWT) for Great Trochanter Pain Syndrome (GTPS) With Gluteus Medius or Minimus Tendinopathy Unknown status NCT03774251 Early Phase 1
16 Point-of-Care Ultrasound in Greater Trochanteric Pain Syndrome (GTPS) Unknown status NCT01642043
17 A Randomised, Controlled, Double-blind Clinical Investigation on the Efficacy and Safety of Radiofrequency Micro Debridement, Topaz, in Recalcitrant Greater Trochanteric Pain Syndrome (GTPS) vs. Standard of Care Completed NCT01562366
18 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
19 Assessing the Expression and the Activity of Rac1 Protein in the Airway Smooth Muscle of Recruiting NCT03325088
20 An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) With Triheptanoin (UX007) Available NCT03773770 Triheptanoin
21 Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome Enrolling by invitation NCT04137692 Early Phase 1
22 Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome No longer available NCT02968953 Triheptanoin
23 Post Study Continuation of C7 for G1D No longer available NCT02018302 Triheptanoin

Search NIH Clinical Center for Glucose Transporter Type 1 Deficiency Syndrome

Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

Genetic tests related to Glucose Transporter Type 1 Deficiency Syndrome:

# Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 29

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

MalaCards organs/tissues related to Glucose Transporter Type 1 Deficiency Syndrome:

40
Eye, Brain, Bone, Smooth Muscle, Endothelial, Cortex

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 6 25 61
21832227 2011
2
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 61 6 25
18606970 2008
3
Imaging the metabolic footprint of Glut1 deficiency on the brain. 25 6 61
12325075 2002
4
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 25 6
11603379 2001
5
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 25 6
10980529 2000
6
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 6 25
9462754 1998
7
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 6 61
25487684 2015
8
Crystal structure of the human glucose transporter GLUT1. 61 6
24847886 2014
9
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 61 6
22976442 2012
10
Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 6 61
17052934 2007
11
Glucose Transporter Type 1 Deficiency Syndrome 6 61
20301603 2002
12
Paroxysmal eye-head movements in Glut1 deficiency syndrome. 61 25
28341645 2017
13
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 25 61
26537434 2015
14
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
15
Long-term clinical course of Glut1 deficiency syndrome. 61 25
24789115 2015
16
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 6
25108116 2014
17
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. 25 61
23999624 2013
18
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 61 25
23443458 2013
19
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 6
23106342 2012
20
Glut1 deficiency syndrome and erythrocyte glucose uptake assay. 25 61
22190371 2011
21
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 25 61
21791420 2011
22
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 6
21555602 2011
23
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. 25 61
20630673 2011
24
Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 25 61
20687207 2010
25
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 25 61
20621801 2010
26
Glut1 deficiency and alternating hemiplegia of childhood. 6
19996082 2009
27
Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 25 61
19901175 2009
28
Autosomal recessive inheritance of GLUT1 deficiency syndrome. 25 61
20221955 2009
29
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 6
19798636 2009
30
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 25 61
18614966 2008
31
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. 61 25
18387950 2008
32
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 61 25
17489814 2007
33
Three Japanese patients with glucose transporter type 1 deficiency syndrome. 61 25
16949238 2007
34
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 61 25
16217704 2005
35
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. 61 25
12752470 2003
36
Introduction of a ketogenic diet in young infants. 25 61
12555938 2002
37
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. 25 61
11477212 2001
38
Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene. 6
11389907 2001
39
Autosomal dominant transmission of GLUT1 deficiency. 6
11136715 2001
40
Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000) 6
11102982 2000
41
Informed consent in clinical research with drugs in Spain: perspective of clinical trials committee members. 6
2344855 1990
42
Triheptanoin for the treatment of brain energy deficit: A 14-year experience. 25
28688166 2017
43
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. 25
25616474 2015
44
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. 25
25110966 2014
45
Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models. 25
23740044 2013
46
Opsoclonus-myoclonus syndrome. 25
23622330 2013
47
Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice. 25
22532550 2013
48
Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. 25
22812641 2012
49
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. 25
21229316 2011
50
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 25
20382060 2010

Variations for Glucose Transporter Type 1 Deficiency Syndrome

ClinVar genetic disease variations for Glucose Transporter Type 1 Deficiency Syndrome:

6 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes NC_000001.11:g.(?_42925375)_(42959176_?)del Deletion Pathogenic 16105 GRCh37: 1:43391046-43424847
GRCh38: 1:42925375-42959176
2 SLC2A1 NM_006516.3(SLC2A1):c.1366A>T (p.Lys456Ter) SNV Pathogenic 16106 rs80359829 GRCh37: 1:43392825-43392825
GRCh38: 1:42927154-42927154
3 SLC2A1 NM_006516.3(SLC2A1):c.1347C>A (p.Tyr449Ter) SNV Pathogenic 16107 rs80359828 GRCh37: 1:43392844-43392844
GRCh38: 1:42927173-42927173
4 SLC2A1 NM_006516.3(SLC2A1):c.272G>A (p.Gly91Asp) SNV Pathogenic 16110 rs80359814 GRCh37: 1:43396720-43396720
GRCh38: 1:42931049-42931049
5 SLC2A1 NM_006516.3(SLC2A1):c.1089del (p.Pro362_Trp363insTer) Deletion Pathogenic 159922 rs587784391 GRCh37: 1:43393465-43393465
GRCh38: 1:42927794-42927794
6 SLC2A1 NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) Deletion Pathogenic 159924 rs587784393 GRCh37: 1:43408983-43408992
GRCh38: 1:42943312-42943321
7 SLC2A1 NM_006516.3(SLC2A1):c.847C>T (p.Gln283Ter) SNV Pathogenic 159930 rs587784397 GRCh37: 1:43395284-43395284
GRCh38: 1:42929613-42929613
8 SLC2A1 NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) Deletion Pathogenic 235888 rs878853161 GRCh37: 1:43395648-43395649
GRCh38: 1:42929977-42929978
9 SLC2A1 NM_006516.3(SLC2A1):c.625G>T (p.Glu209Ter) SNV Pathogenic 801468 rs1387203768 GRCh37: 1:43395598-43395598
GRCh38: 1:42929927-42929927
10 SLC2A1 NM_006516.3(SLC2A1):c.624del (p.Glu209fs) Deletion Pathogenic 801469 rs1570592844 GRCh37: 1:43395599-43395599
GRCh38: 1:42929928-42929928
11 SLC2A1 NM_006516.3(SLC2A1):c.557G>A (p.Trp186Ter) SNV Pathogenic 647165 rs1570592933 GRCh37: 1:43395666-43395666
GRCh38: 1:42929995-42929995
12 SLC2A1 NM_006516.3(SLC2A1):c.274del (p.Arg92fs) Deletion Pathogenic 801470 rs1570593820 GRCh37: 1:43396718-43396718
GRCh38: 1:42931047-42931047
13 SLC2A1 NM_006516.3(SLC2A1):c.1033_1042del (p.Ala345fs) Deletion Pathogenic 495062 rs1553155973 GRCh37: 1:43394635-43394644
GRCh38: 1:42928964-42928973
14 SLC2A1 NM_006516.3(SLC2A1):c.1261T>C (p.Cys421Arg) SNV Pathogenic 565292 rs1557644984 GRCh37: 1:43393293-43393293
GRCh38: 1:42927622-42927622
15 SLC2A1 NM_006516.3(SLC2A1):c.299dup (p.Asn100fs) Duplication Pathogenic 598771 rs1557646673 GRCh37: 1:43396513-43396514
GRCh38: 1:42930842-42930843
16 SLC2A1 NM_006516.3(SLC2A1):c.49G>T (p.Gly17Ter) SNV Pathogenic 436754 rs1345986424 GRCh37: 1:43408962-43408962
GRCh38: 1:42943291-42943291
17 SLC2A1 NM_006516.3(SLC2A1):c.388G>A (p.Gly130Ser) SNV Pathogenic 627587 rs80359819 GRCh37: 1:43396425-43396425
GRCh38: 1:42930754-42930754
18 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) Duplication Pathogenic 619980 GRCh37: 1:43396830-43396831
GRCh38: 1:42931159-42931160
19 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) SNV Pathogenic 198842 rs80359825 GRCh37: 1:43394680-43394680
GRCh38: 1:42929009-42929009
20 SLC2A1 NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) Duplication Pathogenic 973266 GRCh37: 1:43394648-43394649
GRCh38: 1:42928977-42928978
21 SLC2A1 NM_006516.3(SLC2A1):c.732del (p.Met244fs) Deletion Pathogenic 488600 rs1553156069 GRCh37: 1:43395399-43395399
GRCh38: 1:42929728-42929728
22 SLC2A1 NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) SNV Pathogenic 662199 rs80359812 GRCh37: 1:43408910-43408910
GRCh38: 1:42943239-42943239
23 SLC2A1 NM_006516.3(SLC2A1):c.748C>T (p.Gln250Ter) SNV Pathogenic 159928 rs587784396 GRCh37: 1:43395383-43395383
GRCh38: 1:42929712-42929712
24 SLC2A1 NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) SNV Pathogenic 16114 rs121909740 GRCh37: 1:43395308-43395308
GRCh38: 1:42929637-42929637
25 SLC2A1 NM_006516.3(SLC2A1):c.884C>T (p.Thr295Met) SNV Pathogenic 207229 rs80359823 GRCh37: 1:43394969-43394969
GRCh38: 1:42929298-42929298
26 SLC2A1 NM_006516.3(SLC2A1):c.1199G>A (p.Arg400His) SNV Pathogenic 280046 rs776095655 GRCh37: 1:43393355-43393355
GRCh38: 1:42927684-42927684
27 SLC2A1 NM_006516.3(SLC2A1):c.19-2A>G SNV Pathogenic 207225 rs796053272 GRCh37: 1:43408994-43408994
GRCh38: 1:42943323-42943323
28 SLC2A1 NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) SNV Pathogenic 16117 rs267607061 GRCh37: 1:43396536-43396536
GRCh38: 1:42930865-42930865
29 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) SNV Pathogenic 207193 rs796053248 GRCh37: 1:43395556-43395556
GRCh38: 1:42929885-42929885
30 SLC2A1 NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) SNV Pathogenic 16111 rs80359816 GRCh37: 1:43396436-43396436
GRCh38: 1:42930765-42930765
31 SLC2A1 NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) SNV Pathogenic 16118 rs80359818 GRCh37: 1:43396437-43396437
GRCh38: 1:42930766-42930766
32 SLC2A1 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) SNV Pathogenic 202196 rs794729221 GRCh37: 1:43395407-43395407
GRCh38: 1:42929736-42929736
33 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
34 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
35 SLC2A1 NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) SNV Pathogenic 16113 rs121909739 GRCh37: 1:43394913-43394913
GRCh38: 1:42929242-42929242
36 SLC2A1 NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) Deletion Likely pathogenic 635052 rs1557646075 GRCh37: 1:43395594-43395602
GRCh38: 1:42929923-42929931
37 SLC2A1 NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) SNV Likely pathogenic 265386 rs886039517 GRCh37: 1:43395588-43395588
GRCh38: 1:42929917-42929917
38 SLC2A1 NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) SNV Likely pathogenic 207227 rs794727642 GRCh37: 1:43396355-43396355
GRCh38: 1:42930684-42930684
39 SLC2A1 NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) SNV Likely pathogenic 448897 rs1553155986 GRCh37: 1:43394679-43394679
GRCh38: 1:42929008-42929008
40 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) SNV Likely pathogenic 96708 rs13306758 GRCh37: 1:43392819-43392819
GRCh38: 1:42927148-42927148
41 SLC2A1 NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) SNV Likely pathogenic 807494 rs1570590859 GRCh37: 1:43393320-43393320
GRCh38: 1:42927649-42927649
42 SLC2A1 NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) Insertion Likely pathogenic 807495 rs1570590905 GRCh37: 1:43393354-43393355
GRCh38: 1:42927683-42927684
43 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) SNV Likely pathogenic 198842 rs80359825 GRCh37: 1:43394680-43394680
GRCh38: 1:42929009-42929009
44 SLC2A1 NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) SNV Likely pathogenic 159921 rs587784390 GRCh37: 1:43408911-43408911
GRCh38: 1:42943240-42943240
45 SLC2A1 NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) SNV Likely pathogenic 666289 rs1570601007 GRCh37: 1:43408909-43408909
GRCh38: 1:42943238-42943238
46 SLC2A1 NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr) SNV Likely pathogenic 975168 GRCh37: 1:43395400-43395400
GRCh38: 1:42929729-42929729
47 SLC2A1 NM_006516.4(SLC2A1):c.339del (p.Lys114fs) Deletion Likely pathogenic 975958 GRCh37: 1:43396474-43396474
GRCh38: 1:42930803-42930803
48 SLC2A1 NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) SNV Likely pathogenic 976168 GRCh37: 1:43396314-43396314
GRCh38: 1:42930643-42930643
49 SLC2A1 NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) Insertion Likely pathogenic 801471 rs1570601060 GRCh37: 1:43408964-43408965
GRCh38: 1:42943293-42943294
50 SLC2A1 NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) SNV Conflicting interpretations of pathogenicity 95417 rs78388808 GRCh37: 1:43395354-43395354
GRCh38: 1:42929683-42929683

Copy number variations for Glucose Transporter Type 1 Deficiency Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32796 1 39600000 43900000 Deletion GLUT1 deficiency syndrome
2 32797 1 39600000 43900000 Deletion GLUT1 deficiency syndrome
3 32798 1 39600000 43900000 Deletion GLUT1 deficiency syndrome
4 32799 1 39600000 43900000 Deletion GLUT1 deficiency syndrome
5 32800 1 39600000 43900000 Deletion GLUT1 deficiency syndrome

Expression for Glucose Transporter Type 1 Deficiency Syndrome

Search GEO for disease gene expression data for Glucose Transporter Type 1 Deficiency Syndrome.

Pathways for Glucose Transporter Type 1 Deficiency Syndrome

Pathways related to Glucose Transporter Type 1 Deficiency Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Adipocytokine signaling pathway hsa04920

GO Terms for Glucose Transporter Type 1 Deficiency Syndrome

Sources for Glucose Transporter Type 1 Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....