GTPS
MCID: GLC024
MIFTS: 34

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 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:



External Ids:

KEGG 37 H00836
UMLS 73 C1847501

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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.

MalaCards based summary : Glucose Transporter Type 1 Deficiency Syndrome, also known as glut1 deficiency syndrome, is related to glut1 deficiency syndrome 1 and glut1 deficiency syndrome 2, 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 tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes.

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 114)
# Related Disease Score Top Affiliating Genes
1 glut1 deficiency syndrome 1 32.1 SLC2A1 SLC2A1-AS1
2 glut1 deficiency syndrome 2 12.6
3 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.2
4 hyperphenylalaninemia, bh4-deficient, b 11.9
5 stomatin-deficient cryohydrocytosis with neurologic defects 11.6
6 dystonia, dopa-responsive 11.4
7 paroxysmal exertion-induced dyskinesia 11.3
8 hyperinsulinemic hypoglycemia, familial, 6 11.2
9 alternating hemiplegia of childhood 1 11.2
10 immune defect due to absence of thymus 11.1
11 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.1
12 prostate cancer 10.6
13 pertussis 10.3
14 epilepsy 10.1
15 neuroblastoma 10.1
16 cholera 10.1
17 hyperphenylalaninemia 10.1
18 rheumatoid arthritis 10.1
19 cutaneous leishmaniasis 10.1
20 movement disease 10.0
21 early onset absence epilepsy 10.0
22 episodic ataxia 10.0
23 pheochromocytoma 10.0
24 lung cancer 10.0
25 hepatitis 10.0
26 leukemia 10.0
27 mast cell neoplasm 10.0
28 extracutaneous mastocytoma 10.0
29 glioma 10.0
30 alzheimer disease 9.9
31 alacrima, achalasia, and mental retardation syndrome 9.9
32 generalized epilepsy with febrile seizures plus 9.9
33 early-onset parkinson's disease 9.9
34 sarcoma 9.9
35 adenocarcinoma 9.9
36 pseudohypoparathyroidism 9.9
37 influenza 9.9
38 myeloid leukemia 9.9
39 neuropathy 9.9
40 cryohydrocytosis 9.9
41 hereditary spastic paraplegia 9.9
42 alternating hemiplegia of childhood 9.9
43 dystonia 9.9
44 paraplegia 9.9
45 epilepsy with myoclonic-atonic seizures 9.9
46 encephalopathy 9.9
47 epilepsy, idiopathic generalized 9.9
48 west syndrome 9.8
49 hemiplegia 9.8
50 choreatic disease 9.8

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

Interventional clinical trials:

(show all 18)
# 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 Active, not recruiting 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 Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test Recruiting NCT03722212 Not Applicable
13 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
14 Post Study Continuation of C7 for G1D Available NCT02018302 Triheptanoin
15 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Enrolling by invitation NCT03301532 Early Phase 1 Triheptanoin
16 Evaluation of Krio in Children and Adults With Epilepsy Not yet recruiting NCT03202108 Not Applicable
17 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome No longer available NCT02968953 Triheptanoin
18 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
Brain, Eye, Testes, Lung, Heart, Thymus, Myeloid

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
Perioperative Management of a Child With Glucose Transporter Type 1 Deficiency Syndrome: A Case Report. ( 29634559 )
2018
2
Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome. ( 29899725 )
2018
3
Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome. ( 30320424 )
2018
4
Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome. ( 28951496 )
2018
5
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. ( 29223885 )
2018
6
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations. ( 29306089 )
2018
7
Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. ( 29500071 )
2018
8
Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome. ( 29730803 )
2018
9
Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation. ( 28582793 )
2017
10
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. ( 28556183 )
2017
11
Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. ( 28106060 )
2017
12
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. ( 28116237 )
2017
13
Paroxysmal eye-head movements in Glut1 deficiency syndrome. ( 28341645 )
2017
14
Short-term impact of a classical ketogenic diet on gut microbiota in GLUT1 Deficiency Syndrome: A 3-month prospective observational study. ( 28361745 )
2017
15
GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype. ( 28407523 )
2017
16
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. ( 27273526 )
2016
17
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome. ( 27445040 )
2016
18
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. ( 26336901 )
2016
19
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. ( 26768679 )
2016
20
Use of dietary therapies amongst patients with GLUT1 deficiency syndrome. ( 26803281 )
2016
21
Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey. ( 26923720 )
2016
22
Atypical Manifestations in Glut1 Deficiency Syndrome. ( 27250207 )
2016
23
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. ( 27351150 )
2016
24
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. ( 26615362 )
2015
25
Long-term clinical course of Glut1 deficiency syndrome. ( 24789115 )
2015
26
GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases? ( 25997718 )
2015
27
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. ( 24200040 )
2014
28
No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3. ( 24002817 )
2014
29
The many faces of Glut1 deficiency syndrome. ( 23340081 )
2014
30
GLUT1 deficiency syndrome: an update. ( 24269118 )
2014
31
GLUT1 deficiency syndrome into adulthood: a follow-up study. ( 24413642 )
2014
32
Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet. ( 24508593 )
2014
33
Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome. ( 24634059 )
2014
34
Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review. ( 24892788 )
2014
35
[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome]. ( 24120063 )
2013
36
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. ( 23888468 )
2013
37
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). ( 23443458 )
2013
38
Glut1 deficiency syndrome and novel ketogenic diets. ( 23666044 )
2013
39
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. ( 23801573 )
2013
40
GLUT1 deficiency syndrome 2013: current state of the art. ( 23890838 )
2013
41
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. ( 23999624 )
2013
42
GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. ( 22212417 )
2012
43
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood. ( 22622956 )
2012
44
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. ( 22976442 )
2012
45
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. ( 21212456 )
2011
46
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. ( 21501156 )
2011
47
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. ( 21838819 )
2011
48
Milder phenotypes of glucose transporter type 1 deficiency syndrome. ( 21649651 )
2011
49
First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene. ( 20417043 )
2011
50
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. ( 21546317 )
2011

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 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh37 Chromosome 1, 43394666: 43394666
2 SLC2A1 NM_006516.2(SLC2A1): c.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh38 Chromosome 1, 42928995: 42928995
3 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh37 Chromosome 1, 43394612: 43394612
4 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh38 Chromosome 1, 42928941: 42928941
5 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh37 Chromosome 1, 43396414: 43396414
6 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh38 Chromosome 1, 42930743: 42930743
7 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh37 Chromosome 1, 43396396: 43396396
8 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh38 Chromosome 1, 42930725: 42930725
9 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh37 Chromosome 1, 43408966: 43408966
10 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh38 Chromosome 1, 42943295: 42943295
11 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh37 Chromosome 1, 43395635: 43395635
12 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh38 Chromosome 1, 42929964: 42929964
13 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
14 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
15 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh37 Chromosome 1, 43395354: 43395354
16 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh38 Chromosome 1, 42929683: 42929683
17 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh37 Chromosome 1, 43394887: 43394887
18 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh38 Chromosome 1, 42929216: 42929216
19 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh37 Chromosome 1, 43424293: 43424293
20 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh38 Chromosome 1, 42958622: 42958622
21 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh37 Chromosome 1, 43408984: 43408984
22 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh38 Chromosome 1, 42943313: 42943313
23 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
24 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
25 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh37 Chromosome 1, 43393384: 43393384
26 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh38 Chromosome 1, 42927713: 42927713
27 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
28 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
29 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh37 Chromosome 1, 43392754: 43392754
30 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh38 Chromosome 1, 42927083: 42927083
31 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh37 Chromosome 1, 43395461: 43395461
32 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh38 Chromosome 1, 42929790: 42929790
33 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh37 Chromosome 1, 43394874: 43394874
34 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh38 Chromosome 1, 42929203: 42929203
35 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
36 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
37 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh37 Chromosome 1, 43394958: 43394958
38 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh38 Chromosome 1, 42929287: 42929287
39 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh37 Chromosome 1, 43396500: 43396500
40 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh38 Chromosome 1, 42930829: 42930829
41 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
42 SLC2A1 NM_006516.2(SLC2A1): c.274C> A (p.Arg92=) single nucleotide variant Likely benign rs202060209 GRCh38 Chromosome 1, 42931047: 42931047
43 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh37 Chromosome 1, 43424348: 43424348
44 SLC2A1 NM_006516.2(SLC2A1): c.-26G> C single nucleotide variant Benign/Likely benign rs375001117 GRCh38 Chromosome 1, 42958677: 42958677
45 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh38 Chromosome 1, 42928972: 42928972
46 SLC2A1 NM_006516.2(SLC2A1): c.1034C> T (p.Ala345Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769943554 GRCh37 Chromosome 1, 43394643: 43394643
47 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> C single nucleotide variant Likely benign rs113441673 GRCh38 Chromosome 1, 42925704: 42925704
48 SLC2A1 NM_006516.2(SLC2A1): c.*1337A> C single nucleotide variant Likely benign rs113441673 GRCh37 Chromosome 1, 43391375: 43391375
49 SLC2A1 NM_006516.2(SLC2A1): c.*1213G> T single nucleotide variant Benign rs55728431 GRCh38 Chromosome 1, 42925828: 42925828
50 SLC2A1 NM_006516.2(SLC2A1): c.*1213G> T single nucleotide variant Benign rs55728431 GRCh37 Chromosome 1, 43391499: 43391499

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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