GTPS
MCID: GLC024
MIFTS: 41

Glucose Transporter Type 1 Deficiency Syndrome (GTPS)

Categories: Blood 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 24 53 25 29 6
Glut1 Deficiency Syndrome 24 53 25 37 72
De Vivo Disease 24 53 25
Glut1 Ds 24 53 25
Glucose Transport Defect, Blood-Brain Barrier 53 25
Encephalopathy Due to Glut1 Deficiency 53 25
Glucose Transporter Protein Syndrome 53 25
G1d 53 25
Glut-1 Deficiency Syndrome 53
Glut1 Deficiency 25
Gtps 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance in glut1 ds inherited in an autosomal dominant manner is complete....

Classifications:



External Ids:

KEGG 37 H00836
UMLS 72 C1847501

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

Genetics Home Reference : 25 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 glut1 deficiency syndrome 1 and gtp cyclohydrolase 1-deficient dopa-responsive dystonia, 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 Cortisone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes.

NIH Rare Diseases : 53 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 : 37
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.

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 397)
# Related Disease Score Top Affiliating Genes
1 glut1 deficiency syndrome 1 31.5 SLC2A1-AS1 SLC2A1
2 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.4
3 hyperphenylalaninemia, bh4-deficient, b 12.1
4 stomatin-deficient cryohydrocytosis with neurologic defects 11.8
5 dystonia, dopa-responsive 11.7
6 hyperinsulinemic hypoglycemia, familial, 6 11.7
7 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.5
8 alternating hemiplegia of childhood 1 11.3
9 immune defect due to absence of thymus 11.2
10 pertussis 11.0
11 cholera 10.9
12 neuroblastoma 1 10.5
13 generalized epilepsy with febrile seizures plus 10.5
14 pheochromocytoma 10.5
15 adrenal gland pheochromocytoma 10.5
16 ataxia and polyneuropathy, adult-onset 10.4
17 movement disease 10.4
18 glioma 10.4
19 glial tumor 10.4
20 dystonia 10.3
21 microcephaly 10.3
22 helix syndrome 10.3
23 hyperphenylalaninemia 10.3
24 spasticity 10.3
25 parkinson disease, late-onset 10.3
26 polykaryocytosis inducer 10.3
27 prostate cancer 10.3
28 rheumatoid arthritis 10.3
29 cutaneous leishmaniasis 10.3
30 vaccinia 10.2
31 encephalopathy 10.2
32 alacrima, achalasia, and mental retardation syndrome 10.2
33 vascular disease 10.2
34 stomatitis 10.2
35 rapidly involuting congenital hemangioma 10.2
36 segawa syndrome, autosomal recessive 10.2
37 47,xyy 10.2
38 early onset absence epilepsy 10.1
39 childhood absence epilepsy 10.1
40 paroxysmal exertion-induced dyskinesia 10.1
41 erythroleukemia, familial 10.1
42 exanthem 10.1
43 diphtheria 10.1
44 tremor 10.1
45 epilepsy 10.1
46 phenylketonuria 10.1
47 leukemia 10.1
48 hyperglycemia 10.1
49 48,xyyy 10.1
50 alzheimer disease 10.1

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 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cortisone Experimental Phase 4 53-06-5 222786
2 Anti-Inflammatory Agents Phase 4
3
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
4
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
5 Anesthetics, Local Phase 3
6 Hormone Antagonists Phase 3
7 Pharmaceutical Solutions Phase 3
8 Sodium Channel Blockers Phase 3
9 Diuretics, Potassium Sparing Phase 3
10 Hormones Phase 3
11 glucocorticoids Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Respiratory System Agents Phase 3
14 Central Nervous System Depressants Phase 3
15 Anesthetics Phase 3
16 Anti-Asthmatic Agents Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Betamethasone Valerate Phase 3 2152-44-5
19 Betamethasone dipropionate, betamethasone sodium phosphate drug combination Phase 3
20 Betamethasone-17,21-dipropionate Phase 3
21 Betamethasone sodium phosphate Phase 3
22 Betamethasone benzoate Phase 3
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
24
Glycerol Approved, Investigational Phase 2 56-81-5 753
25 Protective Agents Phase 2
26 Tea Phase 1, Phase 2
27
Sodium citrate Approved, Investigational Phase 1 68-04-2
28
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
29 Citrate Phase 1
30
Triamcinolone Approved, Vet_approved Early Phase 1 124-94-7 31307
31
Prednisolone phosphate Approved, Vet_approved 302-25-0
32
Methylprednisolone hemisuccinate Approved 2921-57-5
33
Methylprednisolone Approved, Vet_approved 83-43-2 6741
34
Prednisolone Approved, Vet_approved 50-24-8 5755
35
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
36
Prednisolone hemisuccinate Experimental 2920-86-7
37 triamcinolone acetonide Early Phase 1
38 Triamcinolone hexacetonide Early Phase 1
39 Triamcinolone diacetate Early Phase 1
40 Immunosuppressive Agents Early Phase 1
41 Immunologic Factors Early Phase 1
42 Antiemetics
43 Gastrointestinal Agents
44 Neuroprotective Agents
45 Methylprednisolone Acetate
46 Antineoplastic Agents, Hormonal
47 Autonomic Agents
48 Prednisolone acetate

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Cortisone Injection vs Trigger Point Dry Needling Fin the Treatment of Greater Trochanter Pain Syndrome: A Pilot Study Completed NCT02639039 Phase 4 Cortisone Injection
2 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) Active, not recruiting NCT02960217 Phase 3 UX007;Placebo
3 A Randomised Double Blind Controlled Trial of Injection of Local Anaesthetic and Corticosteroid Under Ultrasound Control in the Greater Trochanteric Pain Syndrome. Terminated NCT01807962 Phase 3 rapidocain and bethametsaone;sterile saline
4 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Unknown status NCT02014883 Phase 2 GLUT1 DS
5 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
6 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 (triheptanoin);Placebo Oil
7 A Natural Formulation for Patients Diagnosed With Xerostomia Completed NCT01647737 Phase 1, Phase 2
8 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS) Recruiting NCT02036853 Phase 2 Triheptanoin
9 An Open-label Extension Study to Assess the Long-term Safety and Efficacy of UX007 in Subjects With Glucose Transporter Type 1 Deficiency Syndrome Active, not recruiting NCT02599961 Phase 2 UX007
10 Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency Withdrawn NCT02021526 Phase 1, Phase 2 Triheptanoin
11 Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B) Unknown status NCT02018315 Phase 1 Triheptanoin
12 Point-of-Care Ultrasound in Greater Trochanteric Pain Syndrome (GTPS) Unknown status NCT01642043
13 Efficacy of Platelet Rich Plasma vs. Corticosteroid Injections for Treating Greater Unknown status NCT02031367 Early Phase 1 Triamcinolone Acetonide
14 Extracorporeal Shockwave Treatment in the Greater Trochanteric Pain Syndrome. Multicenter, Randomized, Controlled Clinical Trial Completed NCT03338465
15 Isometric Versus Isotonic Exercise for Greater Trochanteric Pain Syndrome - a Randomised Controlled Trial Comparing Two Rehabilitation Programmes Completed NCT03145233
16 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
17 Randomized Study Comparing Fluoroscopically-Guided Versus Blinded Trochanteric Bursa Injections Completed NCT00480675
18 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Recruiting NCT03722212
19 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
20 Load Modification Versus Standard Exercise to Inform Treatment for Individuals With Greater Trochanteric Pain Syndrome Recruiting NCT03571971
21 A Double Blind Randomised Control Trial Investigating the Efficacy of Platelet Rich Plasma Versus Placebo for the Treatment of Greater Trochanteric Pain Syndrome (HiPPO Trial) Recruiting NCT03479190
22 Clinical Predictors of Extracorporal Shockwave Therapy Efficacy in Patients Presenting With Lateral Hip Pain Recruiting NCT04058509
23 Validation of the English Version of the Pain Interference Index and the Pain Rating Scale in Children, Adolescents, and Young Adults With Chronic Illness and Their Parents Recruiting NCT01639950
24 The Derivation of New Human Embryonic Stem Cell Lines for Clinical Use Recruiting NCT00353197
25 The Experiences of Patients With Greater Trochanteric Pain Syndrome. Not yet recruiting NCT03720587
26 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 Not yet recruiting NCT03774251 Early Phase 1
27 Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome No longer available NCT02968953 Triheptanoin
28 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 Glucose Transporter Type 1 Deficiency Syndrome 29

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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

41
Brain, Eye, Testes, Bone, Endothelial, Cortex

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Paroxysmal eye-head movements in Glut1 deficiency syndrome. 38 4
28341645 2017
2
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 38 4
26537434 2015
3
Long-term clinical course of Glut1 deficiency syndrome. 38 4
24789115 2015
4
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. 38 4
23999624 2013
5
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 38 4
23443458 2013
6
Glut1 deficiency syndrome and erythrocyte glucose uptake assay. 38 4
22190371 2011
7
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 38 4
21791420 2011
8
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 38 4
21832227 2011
9
T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. 38 4
20630673 2011
10
Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 38 4
20687207 2010
11
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 38 4
20621801 2010
12
Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 38 4
19901175 2009
13
Autosomal recessive inheritance of GLUT1 deficiency syndrome. 38 4
20221955 2009
14
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 38 4
18614966 2008
15
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 38 4
18606970 2008
16
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. 38 4
18387950 2008
17
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development. 38 4
17489814 2007
18
Three Japanese patients with glucose transporter type 1 deficiency syndrome. 38 4
16949238 2007
19
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 38 4
16217704 2005
20
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. 38 4
12752470 2003
21
Introduction of a ketogenic diet in young infants. 38 4
12555938 2002
22
Imaging the metabolic footprint of Glut1 deficiency on the brain. 38 4
12325075 2002
23
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. 38 4
11477212 2001
24
Triheptanoin for the treatment of brain energy deficit: A 14-year experience. 4
28688166 2017
25
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. 4
25616474 2015
26
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. 4
25110966 2014
27
Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models. 4
23740044 2013
28
Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice. 4
22532550 2013
29
Opsoclonus-myoclonus syndrome. 4
23622330 2013
30
Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. 4
22812641 2012
31
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. 4
21229316 2011
32
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. 4
20382060 2010
33
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 4
20129935 2010
34
Defining neurogenetic phenotypes (or how to compare needles in haystacks). 4
20157007 2010
35
The spectrum of movement disorders in Glut-1 deficiency. 4
20063428 2010
36
Glut1 deficiency: CSF glucose. How low is too low? 4
18990414 2008
37
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 4
18577546 2008
38
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 4
18451999 2008
39
Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. 4
16712556 2006
40
A mouse model for Glut-1 haploinsufficiency. 4
16497725 2006
41
Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro. 4
16149077 2005
42
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. 4
15622525 2005
43
Cerebral lactic acidosis correlates with neurological impairment in MELAS. 4
15111665 2004
44
GLUT-1 deficiency without epilepsy--an exceptional case. 4
14605501 2003
45
EEG features of glut-1 deficiency syndrome. 4
12181017 2002
46
Glucose transporter protein syndromes. 4
12420362 2002
47
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 4
11603379 2001
48
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 4
10980529 2000
49
GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. 4
10590023 1999
50
Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. 4
10323476 1999

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 72)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1): c.49G> T (p.Gly17Ter) single nucleotide variant Pathogenic rs1345986424 1:43408962-43408962 1:42943291-42943291
2 SLC2A1 NM_006516.3(SLC2A1): c.388G> A (p.Gly130Ser) single nucleotide variant Pathogenic 1:43396425-43396425 1:42930754-42930754
3 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 1:43394680-43394680 1:42929009-42929009
4 SLC2A1 NM_006516.3(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 1:43396500-43396500 1:42930829-42930829
5 SLC2A1 NM_006516.3(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Conflicting interpretations of pathogenicity rs202060209 1:43396718-43396718 1:42931047-42931047
6 SLC2A1 NM_006516.3(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 1:43394643-43394643 1:42928972-42928972
7 SLC2A1 NM_006516.3(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 1:43396501-43396501 1:42930830-42930830
8 SLC2A1 NM_006516.3(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 1:43424293-43424293 1:42958622-42958622
9 SLC2A1 NM_006516.3(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 1:43395354-43395354 1:42929683-42929683
10 SLC2A1 NM_006516.3(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 1:43392754-43392754 1:42927083-42927083
11 SLC2A1 NM_006516.3(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 1:43395461-43395461 1:42929790-42929790
12 SLC2A1 NM_006516.3(SLC2A1): c.972+7del deletion Conflicting interpretations of pathogenicity rs531385270 1:43394874-43394874 1:42929203-42929203
13 SLC2A1 NM_006516.3(SLC2A1): c.132C> T (p.Tyr44=) single nucleotide variant Uncertain significance rs886046341 1:43396860-43396860 1:42931189-42931189
14 SLC2A1 NM_006516.2(SLC2A1): c.-368A> C single nucleotide variant Uncertain significance rs528964239 1:43424690-43424690 1:42959019-42959019
15 SLC2A1 NM_006516.2(SLC2A1): c.-384G> A single nucleotide variant Uncertain significance rs886046345 1:43424706-43424706 1:42959035-42959035
16 SLC2A1 NM_006516.2(SLC2A1): c.-424C> G single nucleotide variant Uncertain significance rs867977523 1:43424746-43424746 1:42959075-42959075
17 SLC2A1 NM_006516.3(SLC2A1): c.*1611T> C single nucleotide variant Uncertain significance rs1057515457 1:43391101-43391101 1:42925430-42925430
18 SLC2A1 NM_006516.3(SLC2A1): c.*1205C> T single nucleotide variant Uncertain significance rs886046331 1:43391507-43391507 1:42925836-42925836
19 SLC2A1 NM_006516.3(SLC2A1): c.*514G> T single nucleotide variant Uncertain significance rs886046339 1:43392198-43392198 1:42926527-42926527
20 SLC2A1 NM_006516.3(SLC2A1): c.*322T> G single nucleotide variant Uncertain significance rs886046340 1:43392390-43392390 1:42926719-42926719
21 SLC2A1 NM_006516.3(SLC2A1): c.411A> G (p.Thr137=) single nucleotide variant Uncertain significance rs753500924 1:43396402-43396402 1:42930731-42930731
22 SLC2A1 NM_006516.2(SLC2A1): c.-388G> T single nucleotide variant Uncertain significance rs544483207 1:43424710-43424710 1:42959039-42959039
23 SLC2A1 NM_006516.2(SLC2A1): c.-483G> T single nucleotide variant Uncertain significance rs886046346 1:43424805-43424805 1:42959134-42959134
24 SLC2A1 NM_006516.2(SLC2A1): c.-510G> C single nucleotide variant Uncertain significance rs886046347 1:43424832-43424832 1:42959161-42959161
25 SLC2A1 NM_006516.3(SLC2A1): c.*1564C> T single nucleotide variant Uncertain significance rs1057515570 1:43391148-43391148 1:42925477-42925477
26 SLC2A1 NM_006516.3(SLC2A1): c.*1281A> G single nucleotide variant Uncertain significance rs1057515458 1:43391431-43391431 1:42925760-42925760
27 SLC2A1 NM_006516.3(SLC2A1): c.*1246G> A single nucleotide variant Uncertain significance rs886046330 1:43391466-43391466 1:42925795-42925795
28 SLC2A1 NM_006516.3(SLC2A1): c.*1149C> A single nucleotide variant Uncertain significance rs779668330 1:43391563-43391563 1:42925892-42925892
29 SLC2A1 NM_006516.3(SLC2A1): c.*1081T> A single nucleotide variant Uncertain significance rs886046333 1:43391631-43391631 1:42925960-42925960
30 SLC2A1 NM_006516.3(SLC2A1): c.*1016A> G single nucleotide variant Uncertain significance rs886046334 1:43391696-43391696 1:42926025-42926025
31 SLC2A1 NM_006516.3(SLC2A1): c.*784A> G single nucleotide variant Uncertain significance rs886046335 1:43391928-43391928 1:42926257-42926257
32 SLC2A1 NM_006516.3(SLC2A1): c.*597G> A single nucleotide variant Uncertain significance rs886046338 1:43392115-43392115 1:42926444-42926444
33 SLC2A1 NM_006516.2(SLC2A1): c.-225T> G single nucleotide variant Uncertain significance rs886046343 1:43424547-43424547 1:42958876-42958876
34 SLC2A1 NM_006516.3(SLC2A1): c.*1337A> G single nucleotide variant Uncertain significance rs113441673 1:43391375-43391375 1:42925704-42925704
35 SLC2A1 NM_006516.3(SLC2A1): c.*1147G> C single nucleotide variant Uncertain significance rs886046332 1:43391565-43391565 1:42925894-42925894
36 SLC2A1 NM_006516.3(SLC2A1): c.*587A> T single nucleotide variant Uncertain significance rs748209315 1:43392125-43392125 1:42926454-42926454
37 SLC2A1 NM_006516.2(SLC2A1): c.-272G> A single nucleotide variant Uncertain significance rs886046344 1:43424594-43424594 1:42958923-42958923
38 SLC2A1 NM_006516.3(SLC2A1): c.*750T> A single nucleotide variant Uncertain significance rs886046336 1:43391962-43391962 1:42926291-42926291
39 SLC2A1 NM_006516.3(SLC2A1): c.*651G> T single nucleotide variant Uncertain significance rs886046337 1:43392061-43392061 1:42926390-42926390
40 SLC2A1 NM_006516.3(SLC2A1): c.-192G> C single nucleotide variant Uncertain significance rs886046342 1:43424514-43424514 1:42958843-42958843
41 SLC2A1 NM_006516.3(SLC2A1): c.*346G> A single nucleotide variant Likely benign rs190760291 1:43392366-43392366 1:42926695-42926695
42 SLC2A1 NM_006516.3(SLC2A1): c.*560T> C single nucleotide variant Likely benign rs545613558 1:43392152-43392152 1:42926481-42926481
43 SLC2A1 NM_006516.3(SLC2A1): c.*571C> T single nucleotide variant Likely benign rs6413524 1:43392141-43392141 1:42926470-42926470
44 SLC2A1 NM_006516.3(SLC2A1): c.*60C> T single nucleotide variant Likely benign rs2229684 1:43392652-43392652 1:42926981-42926981
45 SLC2A1 NM_006516.3(SLC2A1): c.1278+9C> G single nucleotide variant Likely benign rs550156548 1:43393267-43393267 1:42927596-42927596
46 SLC2A1 NM_006516.3(SLC2A1): c.*971G> A single nucleotide variant Likely benign rs185891628 1:43391741-43391741 1:42926070-42926070
47 SLC2A1 NM_006516.3(SLC2A1): c.*626G> A single nucleotide variant Likely benign rs6413525 1:43392086-43392086 1:42926415-42926415
48 SLC2A1 NM_006516.2(SLC2A1): c.-242C> T single nucleotide variant Likely benign rs561646847 1:43424564-43424564 1:42958893-42958893
49 SLC2A1 NM_006516.3(SLC2A1): c.*22G> A single nucleotide variant Likely benign rs2229683 1:43392690-43392690 1:42927019-42927019
50 SLC2A1 NM_006516.3(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 1:43394958-43394958 1:42929287-42929287

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:

37
# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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