GLUT1DS1
MCID: GLT018
MIFTS: 42

Glut1 Deficiency Syndrome 1 (GLUT1DS1)

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

Aliases & Classifications for Glut1 Deficiency Syndrome 1

MalaCards integrated aliases for Glut1 Deficiency Syndrome 1:

Name: Glut1 Deficiency Syndrome 1 57 72 29 13 6
Encephalopathy Due to Glut1 Deficiency 58 72
Glut1ds1 57 72
Glut1 Deficiency Syndrome, Type 1, Infantile Onset, Severe 39
Classic Glucose Transporter Type 1 Deficiency Syndrome 58
Glut1 Deficiency Syndrome 1, Infantile Onset, Severe 57
Glucose Transport Defect, Blood-Brain Barrier 57
Glut1 Deficiency Syndrome Autosomal Recessive 72
Blood-Brain Barrier Glucose Transport Defect 72
Classic Glut1 Deficiency Syndrome 58
Glut-1 Deficiency Syndrome 72
Glut1 Deficiency Syndrome 70
Glut1 Deficiency 72
Classic Glut1-Ds 58
De Vivo Disease 58

Characteristics:

Orphanet epidemiological data:

58
classic glucose transporter type 1 deficiency syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Australia),1-9/100000 (Denmark); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
phenotypic variability
onset in infancy
favorable response to a ketogenic diet
see also glut1ds2 , an allelic disorder with a less severe phenotype

Inheritance:
autosomal dominant
autosomal recessive (rare)


HPO:

31
glut1 deficiency syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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) (Updated 20-May-2021)

MalaCards based summary : Glut1 Deficiency Syndrome 1, also known as encephalopathy due to glut1 deficiency, is related to glucose transporter type 1 deficiency syndrome and paroxysmal exertion-induced dyskinesia, and has symptoms including ataxia, sleep disturbances and muscle spasticity. An important gene associated with Glut1 Deficiency Syndrome 1 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, eye and liver, and related phenotypes are spasticity and eeg abnormality

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 glucose transporter type 1 deficiency syndrome 11.7
2 paroxysmal exertion-induced dyskinesia 11.3
3 stomatin-deficient cryohydrocytosis with neurologic defects 11.2
4 glut1 deficiency syndrome 2 11.2
5 alternating hemiplegia of childhood 1 11.1
6 alacrima, achalasia, and mental retardation syndrome 10.3
7 seizure disorder 10.3
8 early onset absence epilepsy 10.2
9 migraine with or without aura 1 10.2
10 encephalopathy 10.2
11 childhood absence epilepsy 10.1
12 paroxysmal dyskinesia 10.1
13 epilepsy, idiopathic generalized 12 10.1
14 learning disability 10.1
15 epilepsy with myoclonic-atonic seizures 10.1
16 epilepsy, idiopathic generalized 10.0
17 alternating hemiplegia of childhood 10.0
18 hemiplegia 10.0
19 epilepsy 10.0
20 dystonia 10.0
21 infantile epilepsy syndrome 10.0
22 hereditary spastic paraplegia 10.0
23 early myoclonic encephalopathy 10.0
24 hemolytic anemia 10.0
25 paraplegia 10.0
26 cataract 10.0
27 myoclonus 10.0
28 cryohydrocytosis 9.8
29 fanconi-bickel syndrome 9.8
30 spastic diplegia and mental retardation 9.8
31 dystonia 9 9.8
32 stroke, ischemic 9.8
33 abdominal obesity-metabolic syndrome 1 9.8
34 glucose/galactose malabsorption 9.8
35 congenital disorder of glycosylation, type in 9.8
36 pyruvate dehydrogenase e1-beta deficiency 9.8
37 chorea, childhood-onset, with psychomotor retardation 9.8
38 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
39 west syndrome 9.8
40 lissencephaly 9.8
41 coenzyme q10 deficiency disease 9.8
42 autosomal recessive disease 9.8
43 aphasia 9.8
44 mastoiditis 9.8
45 spastic diplegia 9.8
46 conn's syndrome 9.8
47 choreatic disease 9.8
48 tuberous sclerosis 9.8
49 neuronal ceroid lipofuscinosis 9.8
50 cerebral palsy 9.8

Graphical network of the top 20 diseases related to Glut1 Deficiency Syndrome 1:



Diseases related to Glut1 Deficiency Syndrome 1

Symptoms & Phenotypes for Glut1 Deficiency Syndrome 1

Human phenotypes related to Glut1 Deficiency Syndrome 1:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
6 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
7 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
8 abnormal erythrocyte morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001877
9 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
10 hypoglycorrhachia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011972
11 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
12 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
13 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
14 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
15 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
16 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
17 paroxysmal involuntary eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0007704
18 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
19 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
20 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
21 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
22 paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0003470
23 generalized hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0007034
24 extrapyramidal dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0007308
25 seizure 31 frequent (33%) HP:0001250
26 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
27 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
30 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
31 seizures 58 Very frequent (99-80%)
32 hyperreflexia 31 HP:0001347
33 chorea 58 Frequent (79-30%)
34 dyskinesia 58 Frequent (79-30%)
35 hypertonia 58 Frequent (79-30%)
36 specific learning disability 31 HP:0001328
37 abnormality of metabolism/homeostasis 31 HP:0001939
38 babinski sign 31 HP:0003487
39 postnatal microcephaly 31 HP:0005484
40 paroxysmal dystonia 31 HP:0002268
41 paroxysmal lethargy 31 HP:0011973

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
ataxia
dysarthria
sleep disturbances
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 (Updated 20-May-2021)

UMLS symptoms related to Glut1 Deficiency Syndrome 1:


ataxia; sleep disturbances; muscle spasticity; dystonia, paroxysmal

Drugs & Therapeutics for Glut1 Deficiency Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Unknown status NCT02014883 Phase 2 GLUT1 DS
2 Compatibility of Triheptanoin (C7) With the Ketogenic Diet in Patients Diagnosed With Glucose Transporter Type 1 Deficiency Recruiting NCT03301532 Phase 2 Triheptanoin
3 Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D) Active, not recruiting NCT03181399 Phase 2 Triheptanoin
4 Effects of Sodium Lactate Infusion in Patients With Glucose Transporter 1 Deficiency Syndrome (GLUT1DS) Not yet recruiting NCT04112862 Phase 2
5 Evaluation of METAglut1 Diagnostic Test Performances in Patients With a Clinical Suspicion of GLUT1 Deficiency Syndrome Unknown status NCT03722212
6 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
7 Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome Enrolling by invitation NCT04137692 Early Phase 1
8 Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome No longer available NCT02968953 Triheptanoin
9 Post Study Continuation of C7 for G1D No longer available NCT02018302 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:

40
Brain, Eye, Liver

Publications for Glut1 Deficiency Syndrome 1

Articles related to Glut1 Deficiency Syndrome 1:

(show top 50) (show all 67)
# Title Authors PMID Year
1
From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 57 6
26193382 2015
2
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 6 57
21555602 2011
3
Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 6 57
20687207 2010
4
Autosomal recessive inheritance of GLUT1 deficiency syndrome. 6 57
20221955 2009
5
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 6 57
18606970 2008
6
GLUT1 deficiency syndrome--2007 update. 6 57
17718830 2007
7
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 57 6
16217704 2005
8
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. 57 6
15622525 2005
9
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 57 6
11603379 2001
10
Autosomal dominant transmission of GLUT1 deficiency. 57 6
11136715 2001
11
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 6 57
10980529 2000
12
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 57 6
9462754 1998
13
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
14
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. 6
28961260 2017
15
Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. 6
28116237 2017
16
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1. 6
28018440 2016
17
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. 6
27351150 2016
18
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. 6
26615598 2016
19
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 6
26598494 2015
20
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 6
26537434 2015
21
Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review. 6
26982753 2015
22
New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch. 6
26216499 2015
23
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 6
25487684 2015
24
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 6
25982116 2015
25
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
26
Sporadic and familial glut1ds Italian patients: A wide clinical variability. 6
25564316 2015
27
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency. 6
25381171 2014
28
Severe familial paroxysmal exercise-induced dyskinesia. 6
25099510 2014
29
Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 6
25108116 2014
30
Crystal structure of the human glucose transporter GLUT1. 6
24847886 2014
31
The many faces of Glut1 deficiency syndrome. 6
23340081 2014
32
Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome. 6
24080273 2013
33
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. 6
23448551 2013
34
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 6
23106342 2012
35
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 6
23280796 2012
36
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 6
22976442 2012
37
Allelic variations of glut-1 deficiency syndrome: the chinese experience. 6
22704013 2012
38
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. 6
22282645 2012
39
Glut1 deficiency syndrome and erythrocyte glucose uptake assay. 57
22190371 2011
40
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 6
21832227 2011
41
"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency. 6
21865127 2011
42
Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. 6
21546317 2011
43
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 6
20574033 2010
44
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 6
20129935 2010
45
Glut1 deficiency and alternating hemiplegia of childhood. 6
19996082 2009
46
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 6
19798636 2009
47
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 6
19630075 2009
48
The expanding phenotype of GLUT1-deficiency syndrome. 57
19304421 2009
49
GLUT1 deficiency without epilepsy: yet another case. 6
18403583 2008
50
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 6
18451999 2008

Variations for Glut1 Deficiency Syndrome 1

ClinVar genetic disease variations for Glut1 Deficiency Syndrome 1:

6 (show top 50) (show all 396)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.3(SLC2A1):c.377G>T (p.Arg126Leu) SNV Pathogenic 16109 rs80359816 GRCh37: 1:43396436-43396436
GRCh38: 1:42930765-42930765
2 SLC2A1 NC_000001.11:g.(?_42928912)_(42943341_?)del Deletion Pathogenic 831001 GRCh37: 1:43394583-43409012
GRCh38:
3 SLC2A1 NC_000001.11:g.(?_42958614)_(42958671_?)del Deletion Pathogenic 832366 GRCh37: 1:43424285-43424342
GRCh38:
4 SLC2A1 NM_006516.3(SLC2A1):c.420del (p.Met142fs) Deletion Pathogenic 645950 rs1570593475 GRCh37: 1:43396393-43396393
GRCh38: 1:42930722-42930722
5 SLC2A1 NM_006516.3(SLC2A1):c.1088G>A (p.Trp363Ter) SNV Pathogenic 649755 rs1570591031 GRCh37: 1:43393466-43393466
GRCh38: 1:42927795-42927795
6 SLC2A1 NM_006516.3(SLC2A1):c.305del (p.Leu102fs) Deletion Pathogenic 650450 rs1570593621 GRCh37: 1:43396508-43396508
GRCh38: 1:42930837-42930837
7 SLC2A1 NM_006516.3(SLC2A1):c.835C>T (p.Gln279Ter) SNV Pathogenic 471349 rs1553156051 GRCh37: 1:43395296-43395296
GRCh38: 1:42929625-42929625
8 SLC2A1 NM_006516.3(SLC2A1):c.57del (p.Val20fs) Deletion Pathogenic 662668 rs1570601051 GRCh37: 1:43408954-43408954
GRCh38: 1:42943283-42943283
9 SLC2A1 NM_006516.4(SLC2A1):c.374del (p.Gly125fs) Deletion Pathogenic 960252 GRCh37: 1:43396439-43396439
GRCh38: 1:42930768-42930768
10 SLC2A1 NM_006516.4(SLC2A1):c.18+2T>G SNV Pathogenic 961319 GRCh37: 1:43424303-43424303
GRCh38: 1:42958632-42958632
11 SLC2A1 NM_006516.4(SLC2A1):c.229_239del (p.Met77fs) Deletion Pathogenic 971216 GRCh37: 1:43396753-43396763
GRCh38: 1:42931082-42931092
12 SLC2A1 NM_006516.3(SLC2A1):c.517-1G>A SNV Pathogenic 538674 rs869312673 GRCh37: 1:43395707-43395707
GRCh38: 1:42930036-42930036
13 SLC2A1 NM_006516.3(SLC2A1):c.1199G>T (p.Arg400Leu) SNV Pathogenic 538678 rs776095655 GRCh37: 1:43393355-43393355
GRCh38: 1:42927684-42927684
14 SLC2A1 NM_006516.3(SLC2A1):c.115-1_115dup Duplication Pathogenic 569353 rs1557646893 GRCh37: 1:43396876-43396877
GRCh38: 1:42931205-42931206
15 SLC2A1 NM_006516.3(SLC2A1):c.227dup (p.Met77fs) Duplication Pathogenic 471344 rs1553156199 GRCh37: 1:43396764-43396765
GRCh38: 1:42931093-42931094
16 SLC2A1 NM_006516.4(SLC2A1):c.620_621insT (p.Glu209fs) Insertion Pathogenic 936702 GRCh37: 1:43395602-43395603
GRCh38: 1:42929931-42929932
17 SLC2A1 NM_006516.3(SLC2A1):c.680-11G>A SNV Pathogenic 521457 rs1259158687 GRCh37: 1:43395462-43395462
GRCh38: 1:42929791-42929791
18 SLC2A1 NC_000001.11:g.(?_42929853)_(42931226_?)del Deletion Pathogenic 538688 GRCh37: 1:43395524-43396897
GRCh38: 1:42929853-42931226
19 SLC2A1 NC_000001.11:g.(?_42927021)_(42931226_?)del Deletion Pathogenic 584015 GRCh37: 1:43392692-43396897
GRCh38: 1:42927021-42931226
20 SLC2A1 NM_006516.3(SLC2A1):c.971C>T (p.Ser324Leu) SNV Pathogenic 207201 rs796053253 GRCh37: 1:43394882-43394882
GRCh38: 1:42929211-42929211
21 SLC2A1 NM_006516.3(SLC2A1):c.1198C>T (p.Arg400Cys) SNV Pathogenic 207212 rs796053263 GRCh37: 1:43393356-43393356
GRCh38: 1:42927685-42927685
22 overlap with 2 genes NC_000001.11:g.(?_42925375)_(42959176_?)del Deletion Pathogenic 16105 GRCh37: 1:43391046-43424847
GRCh38: 1:42925375-42959176
23 SLC2A1 NM_006516.3(SLC2A1):c.1366A>T (p.Lys456Ter) SNV Pathogenic 16106 rs80359829 GRCh37: 1:43392825-43392825
GRCh38: 1:42927154-42927154
24 SLC2A1 NM_006516.3(SLC2A1):c.1347C>A (p.Tyr449Ter) SNV Pathogenic 16107 rs80359828 GRCh37: 1:43392844-43392844
GRCh38: 1:42927173-42927173
25 SLC2A1 NM_006516.3(SLC2A1):c.272G>A (p.Gly91Asp) SNV Pathogenic 16110 rs80359814 GRCh37: 1:43396720-43396720
GRCh38: 1:42931049-42931049
26 SLC2A1 NM_006516.3(SLC2A1):c.1089del (p.Pro362_Trp363insTer) Deletion Pathogenic 159922 rs587784391 GRCh37: 1:43393465-43393465
GRCh38: 1:42927794-42927794
27 SLC2A1 NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) Deletion Pathogenic 159924 rs587784393 GRCh37: 1:43408983-43408992
GRCh38: 1:42943312-42943321
28 SLC2A1 NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) SNV Pathogenic 16114 rs121909740 GRCh37: 1:43395308-43395308
GRCh38: 1:42929637-42929637
29 SLC2A1 NM_006516.3(SLC2A1):c.847C>T (p.Gln283Ter) SNV Pathogenic 159930 rs587784397 GRCh37: 1:43395284-43395284
GRCh38: 1:42929613-42929613
30 SLC2A1 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) SNV Pathogenic 202196 rs794729221 GRCh37: 1:43395407-43395407
GRCh38: 1:42929736-42929736
31 SLC2A1 NM_006516.3(SLC2A1):c.884C>T (p.Thr295Met) SNV Pathogenic 207229 rs80359823 GRCh37: 1:43394969-43394969
GRCh38: 1:42929298-42929298
32 SLC2A1 NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) Deletion Pathogenic 235888 rs878853161 GRCh37: 1:43395648-43395649
GRCh38: 1:42929977-42929978
33 SLC2A1 NM_006516.3(SLC2A1):c.748C>T (p.Gln250Ter) SNV Pathogenic 159928 rs587784396 GRCh37: 1:43395383-43395383
GRCh38: 1:42929712-42929712
34 SLC2A1 NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) SNV Pathogenic 374181 rs1057518953 GRCh37: 1:43396413-43396413
GRCh38: 1:42930742-42930742
35 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
36 SLC2A1 NM_006516.3(SLC2A1):c.49G>T (p.Gly17Ter) SNV Pathogenic 436754 rs1345986424 GRCh37: 1:43408962-43408962
GRCh38: 1:42943291-42943291
37 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) SNV Pathogenic 207193 rs796053248 GRCh37: 1:43395556-43395556
GRCh38: 1:42929885-42929885
38 SLC2A1 NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) SNV Pathogenic 16117 rs267607061 GRCh37: 1:43396536-43396536
GRCh38: 1:42930865-42930865
39 SLC2A1 NM_006516.3(SLC2A1):c.1199G>A (p.Arg400His) SNV Pathogenic 280046 rs776095655 GRCh37: 1:43393355-43393355
GRCh38: 1:42927684-42927684
40 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
41 SLC2A1 NM_006516.3(SLC2A1):c.1261T>C (p.Cys421Arg) SNV Pathogenic 565292 rs1557644984 GRCh37: 1:43393293-43393293
GRCh38: 1:42927622-42927622
42 SLC2A1 NM_006516.3(SLC2A1):c.1199G>A (p.Arg400His) SNV Pathogenic 280046 rs776095655 GRCh37: 1:43393355-43393355
GRCh38: 1:42927684-42927684
43 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) SNV Pathogenic 96708 rs13306758 GRCh37: 1:43392819-43392819
GRCh38: 1:42927148-42927148
44 SLC2A1 NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) SNV Pathogenic 16119 rs202060209 GRCh37: 1:43396718-43396718
GRCh38: 1:42931047-42931047
45 SLC2A1 NM_006516.3(SLC2A1):c.299dup (p.Asn100fs) Duplication Pathogenic 598771 rs1557646673 GRCh37: 1:43396513-43396514
GRCh38: 1:42930842-42930843
46 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) Duplication Pathogenic 619980 GRCh37: 1:43396830-43396831
GRCh38: 1:42931159-42931160
47 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) SNV Pathogenic 198842 rs80359825 GRCh37: 1:43394680-43394680
GRCh38: 1:42929009-42929009
48 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) SNV Pathogenic 207193 rs796053248 GRCh37: 1:43395556-43395556
GRCh38: 1:42929885-42929885
49 SLC2A1 NM_006516.3(SLC2A1):c.732del (p.Met244fs) Deletion Pathogenic 488600 rs1553156069 GRCh37: 1:43395399-43395399
GRCh38: 1:42929728-42929728
50 SLC2A1 NM_006516.3(SLC2A1):c.1033_1042del (p.Ala345fs) Deletion Pathogenic 495062 rs1553155973 GRCh37: 1:43394635-43394644
GRCh38: 1:42928964-42928973

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

72 (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 rs155315598
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

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

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