GLUT1DS1
MCID: GLT018
MIFTS: 42

Glut1 Deficiency Syndrome 1 (GLUT1DS1)

Categories: Blood diseases, Genetic diseases, Mental 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 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 glucose transporter type 1 deficiency syndrome and glut1 deficiency syndrome 2, 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 t cells, and related phenotypes are intellectual disability and seizures

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).

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.

Wikipedia : 76 Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter... more...

Related Diseases for Glut1 Deficiency Syndrome 1

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

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 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 frequent (33%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
7 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
10 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
11 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
12 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
13 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
14 apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002186
15 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
16 paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0003470
17 paroxysmal involuntary eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0007704
18 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
19 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
20 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
21 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
22 cyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0000961
23 confusion 59 32 frequent (33%) Frequent (79-30%) HP:0001289
24 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
25 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
26 progressive microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000253
27 generalized hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0007034
28 hypoglycorrhachia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011972
29 extrapyramidal dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0007308
30 hyperreflexia 32 HP:0001347
31 chorea 59 Frequent (79-30%)
32 dyskinesia 59 Frequent (79-30%)
33 hypertonia 59 Frequent (79-30%)
34 abnormality of metabolism/homeostasis 32 HP:0001939
35 specific learning disability 32 HP:0001328
36 babinski sign 32 HP:0003487
37 paroxysmal dystonia 32 HP:0002268
38 postnatal microcephaly 32 HP:0005484
39 abnormality of erythrocytes 59 Very frequent (99-80%)
40 abnormal erythrocyte morphology 32 hallmark (90%) HP:0001877
41 paroxysmal lethargy 32 HP:0011973

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 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
2 Treatment Development of Triheptanoin (G1D) Active, not recruiting NCT03041363 Phase 1 Triheptanoin
3 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Enrolling by invitation NCT03301532 Early Phase 1 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
Brain, Eye, T Cells

Publications for Glut1 Deficiency Syndrome 1

Articles related to Glut1 Deficiency Syndrome 1:

(show all 11)
# Title Authors Year
1
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. ( 28443597 )
2017
2
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. ( 23448551 )
2013
3
Allelic variations of glut-1 deficiency syndrome: the chinese experience. ( 22704013 )
2012
4
Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. ( 20382060 )
2010
5
Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. ( 18479384 )
2008
6
[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. ( 18556184 )
2008
7
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. ( 15622525 )
2005
8
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. ( 12752470 )
2003
9
Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. ( 11603379 )
2001
10
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. ( 10980529 )
2000
11
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 202)
# 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.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh37 Chromosome 1, 43394666: 43394666
18 SLC2A1 NM_006516.2(SLC2A1): c.1011C> T (p.His337=) single nucleotide variant Benign rs2229681 GRCh38 Chromosome 1, 42928995: 42928995
19 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh37 Chromosome 1, 43394612: 43394612
20 SLC2A1 NM_006516.2(SLC2A1): c.1065A> G (p.Leu355=) single nucleotide variant Benign rs2228490 GRCh38 Chromosome 1, 42928941: 42928941
21 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh37 Chromosome 1, 43396414: 43396414
22 SLC2A1 NM_006516.2(SLC2A1): c.399C> T (p.Cys133=) single nucleotide variant Benign rs11537641 GRCh38 Chromosome 1, 42930743: 42930743
23 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh37 Chromosome 1, 43396396: 43396396
24 SLC2A1 NM_006516.2(SLC2A1): c.417C> T (p.Phe139=) single nucleotide variant Benign/Likely benign rs144538918 GRCh38 Chromosome 1, 42930725: 42930725
25 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh37 Chromosome 1, 43408966: 43408966
26 SLC2A1 NM_006516.2(SLC2A1): c.45C> T (p.Ala15=) single nucleotide variant Benign rs1385129 GRCh38 Chromosome 1, 42943295: 42943295
27 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh37 Chromosome 1, 43395635: 43395635
28 SLC2A1 NM_006516.2(SLC2A1): c.588G> A (p.Pro196=) single nucleotide variant Benign rs2229682 GRCh38 Chromosome 1, 42929964: 42929964
29 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
30 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> C single nucleotide variant Benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
31 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh37 Chromosome 1, 43395354: 43395354
32 SLC2A1 NM_006516.2(SLC2A1): c.777C> T (p.Ile259=) single nucleotide variant Conflicting interpretations of pathogenicity rs78388808 GRCh38 Chromosome 1, 42929683: 42929683
33 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh37 Chromosome 1, 43394887: 43394887
34 SLC2A1 NM_006516.2(SLC2A1): c.966C> T (p.Val322=) single nucleotide variant Benign rs2229680 GRCh38 Chromosome 1, 42929216: 42929216
35 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh37 Chromosome 1, 43394696: 43394697
36 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh38 Chromosome 1, 42929025: 42929026
37 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh37 Chromosome 1, 43424293: 43424293
38 SLC2A1 NM_006516.2(SLC2A1): c.18+12G> T single nucleotide variant Conflicting interpretations of pathogenicity rs587781171 GRCh38 Chromosome 1, 42958622: 42958622
39 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh37 Chromosome 1, 43408984: 43408984
40 SLC2A1 NM_006516.2(SLC2A1): c.27G> A (p.Thr9=) single nucleotide variant Benign/Likely benign rs34025424 GRCh38 Chromosome 1, 42943313: 42943313
41 SLC2A1 NM_006516.2(SLC2A1): c.543C> T (p.Gly181=) single nucleotide variant Conflicting interpretations of pathogenicity rs377674001 GRCh37 Chromosome 1, 43395680: 43395680
42 SLC2A1 NM_006516.2(SLC2A1): c.543C> T (p.Gly181=) single nucleotide variant Conflicting interpretations of pathogenicity rs377674001 GRCh38 Chromosome 1, 42930009: 42930009
43 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh37 Chromosome 1, 43395537: 43395537
44 SLC2A1 NM_006516.2(SLC2A1): c.679+7G> T single nucleotide variant Benign/Likely benign rs13306757 GRCh38 Chromosome 1, 42929866: 42929866
45 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh37 Chromosome 1, 43393384: 43393384
46 SLC2A1 NM_006516.2(SLC2A1): c.1170C> T (p.Ile390=) single nucleotide variant Benign/Likely benign rs2236574 GRCh38 Chromosome 1, 42927713: 42927713
47 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh37 Chromosome 1, 43392819: 43392819
48 SLC2A1 NM_006516.2(SLC2A1): c.1372C> A (p.Arg458=) single nucleotide variant Benign/Likely benign rs13306758 GRCh38 Chromosome 1, 42927148: 42927148
49 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh37 Chromosome 1, 43392754: 43392754
50 SLC2A1 NM_006516.2(SLC2A1): c.1437C> T (p.Pro479=) single nucleotide variant Conflicting interpretations of pathogenicity rs146879902 GRCh38 Chromosome 1, 42927083: 42927083

Copy number variations for Glut1 Deficiency Syndrome 1 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 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 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
Content
Loading form....