MCID: GLC024
MIFTS: 39

Glucose Transporter Type 1 Deficiency Syndrome

Categories: Rare diseases, Neuronal diseases, Blood 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 73
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:



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).

MalaCards based summary : Glucose Transporter Type 1 Deficiency Syndrome, also known as glut1 deficiency syndrome, is related to gtp cyclohydrolase 1-deficient dopa-responsive dystonia and hyperphenylalaninemia, bh4-deficient, b, and has symptoms including ataxia, muscle spasticity and sleep disturbances. 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 Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are progressive microcephaly and strabismus

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.

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 95)
# Related Disease Score Top Affiliating Genes
1 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.1
2 hyperphenylalaninemia, bh4-deficient, b 12.1
3 glut1 deficiency syndrome 1 11.6
4 dystonia, dopa-responsive 11.2
5 hyperinsulinemic hypoglycemia, familial, 6 11.0
6 immune defect due to absence of thymus 10.9
7 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
8 prostate cancer 10.5
9 dystonia 10.5
10 neuronitis 10.3
11 endotheliitis 10.3
12 pertussis 10.1
13 epilepsy 10.0
14 neuroblastoma 9.9
15 cholera 9.9
16 pancreatitis 9.9
17 hyperphenylalaninemia 9.9
18 rheumatoid arthritis 9.9
19 cutaneous leishmaniasis 9.9
20 hepatitis 9.9
21 leukemia 9.9
22 early onset absence epilepsy 9.9
23 episodic ataxia 9.9
24 breast cancer 9.8
25 pheochromocytoma 9.8
26 lung cancer 9.8
27 aging 9.8
28 prostatitis 9.8
29 alzheimer disease 9.7
30 diabetes mellitus, noninsulin-dependent 9.7
31 lymphoma 9.7
32 early-onset parkinson's disease 9.7
33 sarcoma 9.7
34 cervicitis 9.7
35 influenza 9.7
36 myeloid leukemia 9.7
37 neuropathy 9.7
38 glioma 9.7
39 hepatocellular carcinoma 9.6
40 multiple endocrine neoplasia, type i 9.6
41 ovarian cancer 9.6
42 parkinson disease, late-onset 9.6
43 protoporphyria, erythropoietic 9.6
44 smith-magenis syndrome 9.6
45 myeloma, multiple 9.6
46 3-methylglutaconic aciduria, type iii 9.6
47 shwachman-diamond syndrome 1 9.6
48 leukemia, acute myeloid 9.6
49 cervical cancer 9.6
50 juvenile myelomonocytic leukemia 9.6

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

Human phenotypes related to Glucose Transporter Type 1 Deficiency Syndrome:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 hallmark (90%) HP:0000253
2 strabismus 32 occasional (7.5%) HP:0000486
3 delayed speech and language development 32 frequent (33%) HP:0000750
4 cyanosis 32 frequent (33%) HP:0000961
5 intellectual disability 32 frequent (33%) HP:0001249
6 ataxia 32 hallmark (90%) HP:0001251
7 lethargy 32 frequent (33%) HP:0001254
8 spasticity 32 hallmark (90%) HP:0001257
9 dysarthria 32 frequent (33%) HP:0001260
10 global developmental delay 32 hallmark (90%) HP:0001263
11 choreoathetosis 32 frequent (33%) HP:0001266
12 hemiparesis 32 frequent (33%) HP:0001269
13 confusion 32 frequent (33%) HP:0001289
14 encephalopathy 32 hallmark (90%) HP:0001298
15 dystonia 32 hallmark (90%) HP:0001332
16 myoclonus 32 occasional (7.5%) HP:0001336
17 abnormal erythrocyte morphology 32 hallmark (90%) HP:0001877
18 status epilepticus 32 hallmark (90%) HP:0002133
19 apraxia 32 occasional (7.5%) HP:0002186
20 headache 32 frequent (33%) HP:0002315
21 eeg abnormality 32 hallmark (90%) HP:0002353
22 sleep disturbance 32 occasional (7.5%) HP:0002360
23 central apnea 32 occasional (7.5%) HP:0002871
24 paralysis 32 frequent (33%) HP:0003470
25 muscle stiffness 32 frequent (33%) HP:0003552
26 generalized hyperreflexia 32 frequent (33%) HP:0007034
27 extrapyramidal dyskinesia 32 frequent (33%) HP:0007308
28 paroxysmal involuntary eye movements 32 frequent (33%) HP:0007704
29 hypoglycorrhachia 32 hallmark (90%) HP:0011972

UMLS symptoms related to Glucose Transporter Type 1 Deficiency Syndrome:


ataxia, muscle spasticity, sleep disturbances, 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Protective Agents Phase 2
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
6 Citrate Nutraceutical Phase 1
7 Micronutrients Not Applicable
8 Trace Elements Not Applicable
9 Chelating Agents
10 Anticoagulants
11 Calcium, Dietary

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 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
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 Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Unknown status NCT02000960 Phase 2 Triheptanoin
4 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Completed NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
5 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome Recruiting NCT02036853 Phase 2 Triheptanoin
6 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
7 Study to Assess the Long Term Safety and Efficacy of UX007 in Subjects With Glucose Type 1 DS Enrolling by invitation NCT02599961 Phase 2 UX007
8 Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D) Not yet recruiting NCT02021526 Phase 1, Phase 2 Triheptanoin
9 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) Unknown status NCT02018315 Phase 1 Triheptanoin
10 Treatment Development of Triheptanoin (G1D) Active, not recruiting NCT03041363 Phase 1 Triheptanoin
11 Evaluation of Keyo in Children With Epilepsy Completed NCT02915211 Not Applicable
12 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
13 Post Study Continuation of C7 for G1D Available NCT02018302 Triheptanoin
14 Evaluation of Krio in Children and Adults With Epilepsy Not yet recruiting NCT03202108 Not Applicable
15 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Not yet recruiting NCT03301532 Early Phase 1 Triheptanoin
16 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome No longer available NCT02968953 Triheptanoin
17 Triheptanoin (UX007) to Treat Citrate Transporter Deficiency No longer available NCT02500082 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
Eye, Brain, Testes

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 19)
# Title Authors Year
1
Perioperative Management of a Child With Glucose Transporter Type 1 Deficiency Syndrome: A Case Report. ( 29634559 )
2018
2
Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation. ( 28582793 )
2017
3
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. ( 28556183 )
2017
4
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. ( 27273526 )
2016
5
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome. ( 27445040 )
2016
6
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. ( 26615362 )
2015
7
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. ( 24200040 )
2014
8
[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome]. ( 24120063 )
2013
9
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. ( 23888468 )
2013
10
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). ( 23443458 )
2013
11
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. ( 21212456 )
2011
12
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. ( 21501156 )
2011
13
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. ( 21838819 )
2011
14
Milder phenotypes of glucose transporter type 1 deficiency syndrome. ( 21649651 )
2011
15
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. ( 17869467 )
2008
16
Three Japanese patients with glucose transporter type 1 deficiency syndrome. ( 16949238 )
2007
17
Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. ( 15021248 )
2004
18
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. ( 11477212 )
2001
19
Glucose Transporter Type 1 Deficiency Syndrome ( 20301603 )
1993

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 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh37 Chromosome 1, 43395461: 43395461
2 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh38 Chromosome 1, 42929790: 42929790
3 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh37 Chromosome 1, 43394874: 43394874
4 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh38 Chromosome 1, 42929203: 42929203
5 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
6 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
7 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh37 Chromosome 1, 43394958: 43394958
8 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh38 Chromosome 1, 42929287: 42929287
9 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh37 Chromosome 1, 43396500: 43396500
10 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh38 Chromosome 1, 42930829: 42930829
11 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
12 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh38 Chromosome 1, 42931047: 42931047
13 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh37 Chromosome 1, 43424348: 43424348
14 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh38 Chromosome 1, 42958677: 42958677
15 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh38 Chromosome 1, 42928972: 42928972
16 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh37 Chromosome 1, 43394643: 43394643
17 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> C single nucleotide variant Likely benign rs113441673 GRCh38 Chromosome 1, 42925704: 42925704
18 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> C single nucleotide variant Likely benign rs113441673 GRCh37 Chromosome 1, 43391375: 43391375
19 SLC2A1 NM_006516.2(SLC2A1): c.*1213G> T single nucleotide variant Benign rs55728431 GRCh38 Chromosome 1, 42925828: 42925828
20 SLC2A1 NM_006516.2(SLC2A1): c.*1213G> T single nucleotide variant Benign rs55728431 GRCh37 Chromosome 1, 43391499: 43391499
21 SLC2A1 NM_006516.2(SLC2A1): c.*1205C> T single nucleotide variant Uncertain significance rs886046331 GRCh38 Chromosome 1, 42925836: 42925836
22 SLC2A1 NM_006516.2(SLC2A1): c.*1205C> T single nucleotide variant Uncertain significance rs886046331 GRCh37 Chromosome 1, 43391507: 43391507
23 SLC2A1 NM_006516.2(SLC2A1): c.*514G> T single nucleotide variant Uncertain significance rs886046339 GRCh38 Chromosome 1, 42926527: 42926527
24 SLC2A1 NM_006516.2(SLC2A1): c.*514G> T single nucleotide variant Uncertain significance rs886046339 GRCh37 Chromosome 1, 43392198: 43392198
25 SLC2A1 NM_006516.2(SLC2A1): c.*322T> G single nucleotide variant Uncertain significance rs886046340 GRCh37 Chromosome 1, 43392390: 43392390
26 SLC2A1 NM_006516.2(SLC2A1): c.*322T> G single nucleotide variant Uncertain significance rs886046340 GRCh38 Chromosome 1, 42926719: 42926719
27 SLC2A1 NM_006516.2(SLC2A1): c.*22G> A single nucleotide variant Likely benign rs2229683 GRCh37 Chromosome 1, 43392690: 43392690
28 SLC2A1 NM_006516.2(SLC2A1): c.*22G> A single nucleotide variant Likely benign rs2229683 GRCh38 Chromosome 1, 42927019: 42927019
29 SLC2A1 NM_006516.2(SLC2A1): c.411A> G (p.Thr137=) single nucleotide variant Uncertain significance rs753500924 GRCh37 Chromosome 1, 43396402: 43396402
30 SLC2A1 NM_006516.2(SLC2A1): c.411A> G (p.Thr137=) single nucleotide variant Uncertain significance rs753500924 GRCh38 Chromosome 1, 42930731: 42930731
31 SLC2A1 NM_006516.2(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 GRCh37 Chromosome 1, 43396501: 43396501
32 SLC2A1 NM_006516.2(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 GRCh38 Chromosome 1, 42930830: 42930830
33 SLC2A1 NM_006516.2(SLC2A1): c.132C> T (p.Tyr44=) single nucleotide variant Uncertain significance rs886046341 GRCh37 Chromosome 1, 43396860: 43396860
34 SLC2A1 NM_006516.2(SLC2A1): c.132C> T (p.Tyr44=) single nucleotide variant Uncertain significance rs886046341 GRCh38 Chromosome 1, 42931189: 42931189
35 SLC2A1 NM_006516.2(SLC2A1): c.-190G> C single nucleotide variant Likely benign rs114514007 GRCh37 Chromosome 1, 43424512: 43424512
36 SLC2A1 NM_006516.2(SLC2A1): c.-190G> C single nucleotide variant Likely benign rs114514007 GRCh38 Chromosome 1, 42958841: 42958841
37 SLC2A1 NM_006516.2(SLC2A1): c.-368A> C single nucleotide variant Uncertain significance rs528964239 GRCh38 Chromosome 1, 42959019: 42959019
38 SLC2A1 NM_006516.2(SLC2A1): c.-368A> C single nucleotide variant Uncertain significance rs528964239 GRCh37 Chromosome 1, 43424690: 43424690
39 SLC2A1 NM_006516.2(SLC2A1): c.-384G> A single nucleotide variant Uncertain significance rs886046345 GRCh38 Chromosome 1, 42959035: 42959035
40 SLC2A1 NM_006516.2(SLC2A1): c.-384G> A single nucleotide variant Uncertain significance rs886046345 GRCh37 Chromosome 1, 43424706: 43424706
41 SLC2A1 NM_006516.2(SLC2A1): c.-424C> G single nucleotide variant Uncertain significance rs867977523 GRCh38 Chromosome 1, 42959075: 42959075
42 SLC2A1 NM_006516.2(SLC2A1): c.-424C> G single nucleotide variant Uncertain significance rs867977523 GRCh37 Chromosome 1, 43424746: 43424746
43 SLC2A1 NM_006516.2(SLC2A1): c.*1611T> C single nucleotide variant Uncertain significance rs1057515457 GRCh38 Chromosome 1, 42925430: 42925430
44 SLC2A1 NM_006516.2(SLC2A1): c.*1611T> C single nucleotide variant Uncertain significance rs1057515457 GRCh37 Chromosome 1, 43391101: 43391101
45 SLC2A1 NM_006516.2(SLC2A1): c.*1588G> A single nucleotide variant Likely benign rs189700252 GRCh38 Chromosome 1, 42925453: 42925453
46 SLC2A1 NM_006516.2(SLC2A1): c.*1588G> A single nucleotide variant Likely benign rs189700252 GRCh37 Chromosome 1, 43391124: 43391124
47 SLC2A1 NM_006516.2(SLC2A1): c.*1587A> G single nucleotide variant Likely benign rs140560514 GRCh38 Chromosome 1, 42925454: 42925454
48 SLC2A1 NM_006516.2(SLC2A1): c.*1587A> G single nucleotide variant Likely benign rs140560514 GRCh37 Chromosome 1, 43391125: 43391125
49 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> G single nucleotide variant Uncertain significance rs113441673 GRCh38 Chromosome 1, 42925704: 42925704
50 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> G single nucleotide variant Uncertain significance rs113441673 GRCh37 Chromosome 1, 43391375: 43391375

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32796 1 39600000 43900000 Deletion facilitated GLUT1 deficiency syndrome
2 32797 1 39600000 43900000 Deletion gene GLUT1 deficiency syndrome
3 32798 1 39600000 43900000 Deletion glucose GLUT1 deficiency syndrome
4 32799 1 39600000 43900000 Deletion human GLUT1 deficiency syndrome
5 32800 1 39600000 43900000 Deletion transporter 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:

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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