MCID: GLT018
MIFTS: 37

Glut1 Deficiency Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glut1 Deficiency Syndrome 1

MalaCards integrated aliases for Glut1 Deficiency Syndrome 1:

Name: Glut1 Deficiency Syndrome 1 57 75 29 13 6
Encephalopathy Due to Glut1 Deficiency 59 75
Glut-1 Deficiency Syndrome 59 75
Glut1ds1 57 75
Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe 40
Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 57
Glucose Transport Defect, Blood-Brain Barrier 57
Glut1 Deficiency Syndrome Autosomal Recessive 75
Blood-Brain Barrier Glucose Transport Defect 75
Glucose Transporter Type 1 Deficiency 59
Glut1 Deficiency Syndrome 73
Glut1 Deficiency 75
De Vivo Disease 59
Glut1-Ds 59

Characteristics:

Orphanet epidemiological data:

59
encephalopathy due to glut1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Australia),1-9/100000 (Denmark); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (rare)

Miscellaneous:
onset in infancy
phenotypic variability
favorable response to a ketogenic diet
see also glut1ds2 , an allelic disorder with a less severe phenotype


HPO:

32
glut1 deficiency syndrome 1:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Glut1 Deficiency Syndrome 1

OMIM : 57 GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 (612126) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009). (606777)

MalaCards based summary : Glut1 Deficiency Syndrome 1, also known as encephalopathy due to glut1 deficiency, is related to glut1 deficiency syndrome 2 and glucose transporter type 1 deficiency syndrome, and has symptoms including ataxia, muscle spasticity and sleep disturbances. An important gene associated with Glut1 Deficiency Syndrome 1 is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Glycerol and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are seizures and ataxia

UniProtKB/Swiss-Prot : 75 GLUT1 deficiency syndrome 1: A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.

Related Diseases for Glut1 Deficiency Syndrome 1

Diseases related to Glut1 Deficiency Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glut1 deficiency syndrome 2 12.5
2 glucose transporter type 1 deficiency syndrome 11.7
3 stomatin-deficient cryohydrocytosis with neurologic defects 11.0

Symptoms & Phenotypes for Glut1 Deficiency Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
hyperreflexia
developmental delay
more
Head And Neck Eyes:
abnormal eye movements, paroxysmal

Head And Neck Head:
deceleration of head growth
microcephaly, acquired

Laboratory Abnormalities:
hypoglycorrhachia (low glucose in csf)
low-to-normal csf lactate
reduced erythrocyte glucose/hexose transport


Clinical features from OMIM:

606777

Human phenotypes related to Glut1 Deficiency Syndrome 1:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 Very frequent (99-80%) HP:0001251
3 spasticity 59 32 Very frequent (99-80%) HP:0001257
4 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
5 eeg abnormality 59 32 Very frequent (99-80%) HP:0002353
6 hypoglycorrhachia 59 32 Very frequent (99-80%) HP:0011972
7 delayed speech and language development 59 32 Frequent (79-30%) HP:0000750
8 intellectual disability 59 32 Frequent (79-30%) HP:0001249
9 dysarthria 59 32 Frequent (79-30%) HP:0001260
10 choreoathetosis 59 32 Frequent (79-30%) HP:0001266
11 hemiparesis 59 32 Frequent (79-30%) HP:0001269
12 confusion 59 32 Frequent (79-30%) HP:0001289
13 paralysis 59 32 Frequent (79-30%) HP:0003470
14 paroxysmal involuntary eye movements 59 32 Frequent (79-30%) HP:0007704
15 myoclonus 59 32 Occasional (29-5%) HP:0001336
16 sleep disturbance 59 32 Occasional (29-5%) HP:0002360
17 progressive microcephaly 59 Very frequent (99-80%)
18 encephalopathy 59 Very frequent (99-80%)
19 dystonia 59 Very frequent (99-80%)
20 abnormality of erythrocytes 59 Very frequent (99-80%)
21 status epilepticus 59 Very frequent (99-80%)
22 cyanosis 59 Frequent (79-30%)
23 lethargy 59 Frequent (79-30%)
24 hypertonia 59 Frequent (79-30%)
25 chorea 59 Frequent (79-30%)
26 headache 59 Frequent (79-30%)
27 muscle stiffness 59 Frequent (79-30%)
28 generalized hyperreflexia 59 Frequent (79-30%)
29 extrapyramidal dyskinesia 59 Frequent (79-30%)
30 dyskinesia 59 Frequent (79-30%)
31 strabismus 59 Occasional (29-5%)
32 apraxia 59 Occasional (29-5%)
33 central apnea 59 Occasional (29-5%)
34 specific learning disability 32 HP:0001328
35 hyperreflexia 32 HP:0001347
36 abnormality of metabolism/homeostasis 32 HP:0001939
37 paroxysmal dystonia 32 HP:0002268
38 babinski sign 32 HP:0003487
39 postnatal microcephaly 32 HP:0005484
40 paroxysmal lethargy 32 HP:0011973

UMLS symptoms related to Glut1 Deficiency Syndrome 1:


ataxia, muscle spasticity, sleep disturbances, dystonia, paroxysmal

Drugs & Therapeutics for Glut1 Deficiency Syndrome 1

Drugs for Glut1 Deficiency Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# 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

Interventional clinical trials:

(show all 16)
# 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 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Not yet recruiting NCT03301532 Early Phase 1 Triheptanoin
15 Evaluation of Krio in Children and Adults With Epilepsy Not yet recruiting NCT03202108 Not Applicable
16 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome No longer available NCT02968953 Triheptanoin

Search NIH Clinical Center for Glut1 Deficiency Syndrome 1

Genetic Tests for Glut1 Deficiency Syndrome 1

Genetic tests related to Glut1 Deficiency Syndrome 1:

# Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 1 29 SLC2A1

Anatomical Context for Glut1 Deficiency Syndrome 1

MalaCards organs/tissues related to Glut1 Deficiency Syndrome 1:

41
Eye, Brain

Publications for Glut1 Deficiency Syndrome 1

Articles related to Glut1 Deficiency Syndrome 1:

# Title Authors Year
1
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. ( 23448551 )
2013
2
Allelic variations of glut-1 deficiency syndrome: the chinese experience. ( 22704013 )
2012
3
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. ( 20382060 )
2010
4
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. ( 18479384 )
2008
5
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. ( 18556184 )
2008
6
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. ( 15622525 )
2005
7
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. ( 12752470 )
2003
8
Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. ( 11603379 )
2001
9
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. ( 10980529 )
2000
10
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. ( 9462754 )
1998

Variations for Glut1 Deficiency Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Glut1 Deficiency Syndrome 1:

75 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Gly91Asp VAR_013182 rs80359814
2 SLC2A1 p.Arg126His VAR_013183 rs80359816
3 SLC2A1 p.Arg126Leu VAR_013184 rs80359816
4 SLC2A1 p.Lys256Glu VAR_013185 rs121909738
5 SLC2A1 p.Ser66Phe VAR_013283 rs80359813
6 SLC2A1 p.Glu146Lys VAR_013284 rs80359820
7 SLC2A1 p.Thr310Ile VAR_013285 rs80359824
8 SLC2A1 p.Arg333Trp VAR_013286 rs80359825
9 SLC2A1 p.Asn34Ser VAR_054756
10 SLC2A1 p.Arg126Cys VAR_054757 rs80359818
11 SLC2A1 p.Gly130Ser VAR_054758 rs80359819
12 SLC2A1 p.Arg153Cys VAR_054759
13 SLC2A1 p.Thr295Met VAR_054763 rs80359823
14 SLC2A1 p.Asn34Tyr VAR_065206
15 SLC2A1 p.Met96Val VAR_065209 rs753161833
16 SLC2A1 p.Ala155Val VAR_065211
17 SLC2A1 p.Arg212Cys VAR_065213 rs387907312
18 SLC2A1 p.Arg212His VAR_065214 rs886039517
19 SLC2A1 p.Arg223Trp VAR_065216 rs796053248
20 SLC2A1 p.Glu329Gln VAR_065220
21 SLC2A1 p.Arg333Gln VAR_065221
22 SLC2A1 p.Gly382Asp VAR_065222
23 SLC2A1 p.Ala405Asp VAR_065223
24 SLC2A1 p.Pro485Leu VAR_065224
25 SLC2A1 p.Arg468Trp VAR_069080 rs267607059

ClinVar genetic disease variations for Glut1 Deficiency Syndrome 1:

6
(show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NC_000001.11: g.(?_42925375)_(42959176_?)del deletion Pathogenic GRCh37 Chromosome 1, 43391046: 43424847
2 SLC2A1 NC_000001.11: g.(?_42925375)_(42959176_?)del deletion Pathogenic GRCh38 Chromosome 1, 42925375: 42959176
3 SLC2A1 NM_006516.2(SLC2A1): c.1366A> T (p.Lys456Ter) single nucleotide variant Pathogenic rs80359829 GRCh37 Chromosome 1, 43392825: 43392825
4 SLC2A1 NM_006516.2(SLC2A1): c.1366A> T (p.Lys456Ter) single nucleotide variant Pathogenic rs80359829 GRCh38 Chromosome 1, 42927154: 42927154
5 SLC2A1 NM_006516.2(SLC2A1): c.1347C> A (p.Tyr449Ter) single nucleotide variant Pathogenic rs80359828 GRCh37 Chromosome 1, 43392844: 43392844
6 SLC2A1 NM_006516.2(SLC2A1): c.1347C> A (p.Tyr449Ter) single nucleotide variant Pathogenic rs80359828 GRCh38 Chromosome 1, 42927173: 42927173
7 SLC2A1 NM_006516.2(SLC2A1): c.272G> A (p.Gly91Asp) single nucleotide variant Pathogenic rs80359814 GRCh37 Chromosome 1, 43396720: 43396720
8 SLC2A1 NM_006516.2(SLC2A1): c.272G> A (p.Gly91Asp) single nucleotide variant Pathogenic rs80359814 GRCh38 Chromosome 1, 42931049: 42931049
9 SLC2A1 NM_006516.2(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh37 Chromosome 1, 43396436: 43396436
10 SLC2A1 NM_006516.2(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh38 Chromosome 1, 42930765: 42930765
11 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
12 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
13 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
14 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh38 Chromosome 1, 42929637: 42929637
15 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
16 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
17 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh37 Chromosome 1, 43394696: 43394697
18 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh38 Chromosome 1, 42929025: 42929026
19 SLC2A1 NM_006516.2(SLC2A1): c.1089delG (p.Trp363Terfs) deletion Pathogenic rs587784391 GRCh37 Chromosome 1, 43393465: 43393465
20 SLC2A1 NM_006516.2(SLC2A1): c.1089delG (p.Trp363Terfs) deletion Pathogenic rs587784391 GRCh38 Chromosome 1, 42927794: 42927794
21 SLC2A1 NM_006516.2(SLC2A1): c.1007_1009delTGC (p.Leu336del) deletion Uncertain significance rs587784389 GRCh37 Chromosome 1, 43394668: 43394670
22 SLC2A1 NM_006516.2(SLC2A1): c.1007_1009delTGC (p.Leu336del) deletion Uncertain significance rs587784389 GRCh38 Chromosome 1, 42928997: 42928999
23 SLC2A1 NM_006516.2(SLC2A1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs587784397 GRCh37 Chromosome 1, 43395284: 43395284
24 SLC2A1 NM_006516.2(SLC2A1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs587784397 GRCh38 Chromosome 1, 42929613: 42929613
25 SLC2A1 NM_006516.2(SLC2A1): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs587784396 GRCh37 Chromosome 1, 43395383: 43395383
26 SLC2A1 NM_006516.2(SLC2A1): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs587784396 GRCh38 Chromosome 1, 42929712: 42929712
27 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh37 Chromosome 1, 43395461: 43395461
28 SLC2A1 NM_006516.2(SLC2A1): c.680-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587784394 GRCh38 Chromosome 1, 42929790: 42929790
29 SLC2A1 NM_006516.2(SLC2A1): c.679+4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs139492241 GRCh37 Chromosome 1, 43395540: 43395540
30 SLC2A1 NM_006516.2(SLC2A1): c.679+4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs139492241 GRCh38 Chromosome 1, 42929869: 42929869
31 SLC2A1 NM_006516.2(SLC2A1): c.100A> G (p.Asn34Asp) single nucleotide variant Likely pathogenic rs587784390 GRCh37 Chromosome 1, 43408911: 43408911
32 SLC2A1 NM_006516.2(SLC2A1): c.100A> G (p.Asn34Asp) single nucleotide variant Likely pathogenic rs587784390 GRCh38 Chromosome 1, 42943240: 42943240
33 SLC2A1 NM_006516.2(SLC2A1): c.19_28delAAGCTGACGG (p.Lys7Valfs) deletion Pathogenic rs587784393 GRCh37 Chromosome 1, 43408983: 43408992
34 SLC2A1 NM_006516.2(SLC2A1): c.19_28delAAGCTGACGG (p.Lys7Valfs) deletion Pathogenic rs587784393 GRCh38 Chromosome 1, 42943312: 42943321
35 SLC2A1 NM_006516.2(SLC2A1): c.1296C> A (p.Tyr432Ter) single nucleotide variant Pathogenic rs75485205 GRCh37 Chromosome 1, 43392895: 43392895
36 SLC2A1 NM_006516.2(SLC2A1): c.1296C> A (p.Tyr432Ter) single nucleotide variant Pathogenic rs75485205 GRCh38 Chromosome 1, 42927224: 42927224
37 SLC2A1 NM_006516.2(SLC2A1): c.907dupG (p.Val303Glyfs) duplication Pathogenic rs796065334 GRCh37 Chromosome 1, 43394946: 43394946
38 SLC2A1 NM_006516.2(SLC2A1): c.907dupG (p.Val303Glyfs) duplication Pathogenic rs796065334 GRCh38 Chromosome 1, 42929275: 42929275
39 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh37 Chromosome 1, 43394874: 43394874
40 SLC2A1 NM_006516.2(SLC2A1): c.972+7delC deletion Conflicting interpretations of pathogenicity rs531385270 GRCh38 Chromosome 1, 42929203: 42929203
41 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
42 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh38 Chromosome 1, 42929009: 42929009
43 SLC2A1 NM_006516.2(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh37 Chromosome 1, 43395407: 43395407
44 SLC2A1 NM_006516.2(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh38 Chromosome 1, 42929736: 42929736
45 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh37 Chromosome 1, 43394958: 43394958
46 SLC2A1 NM_006516.2(SLC2A1): c.895G> A (p.Glu299Lys) single nucleotide variant Likely benign rs148518827 GRCh38 Chromosome 1, 42929287: 42929287
47 SLC2A1 NM_006516.2(SLC2A1): c.884C> T (p.Thr295Met) single nucleotide variant Pathogenic rs80359823 GRCh37 Chromosome 1, 43394969: 43394969
48 SLC2A1 NM_006516.2(SLC2A1): c.884C> T (p.Thr295Met) single nucleotide variant Pathogenic rs80359823 GRCh38 Chromosome 1, 42929298: 42929298
49 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh37 Chromosome 1, 43396500: 43396500
50 SLC2A1 NM_006516.2(SLC2A1): c.313G> A (p.Val105Met) single nucleotide variant Conflicting interpretations of pathogenicity rs577667739 GRCh38 Chromosome 1, 42930829: 42930829

Expression for Glut1 Deficiency Syndrome 1

Search GEO for disease gene expression data for Glut1 Deficiency Syndrome 1.

Pathways for Glut1 Deficiency Syndrome 1

GO Terms for Glut1 Deficiency Syndrome 1

Sources for Glut1 Deficiency Syndrome 1

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