GLUT1DS1
MCID: GLT018
MIFTS: 33

Glut1 Deficiency Syndrome 1 (GLUT1DS1) malady

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

Aliases & Classifications for Glut1 Deficiency Syndrome 1

Aliases & Descriptions for Glut1 Deficiency Syndrome 1:

Name: Glut1 Deficiency Syndrome 1 54 66 29 13
Encephalopathy Due to Glut1 Deficiency 56 66
Glut-1 Deficiency Syndrome 56 66
Glut1 Deficiency Syndrome Autosomal Recessive 66
Blood-Brain Barrier Glucose Transport Defect 66
Glucose Transporter Type 1 Deficiency 56
Glut1 Deficiency Syndrome 69
Glut1 Deficiency 66
De Vivo Disease 56
Glut1-Ds 56
Glut1ds1 66

Characteristics:

Orphanet epidemiological data:

56
encephalopathy due to glut1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Australia),1-9/100000 (Denmark); Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 606777
Orphanet 56 ORPHA71277
ICD10 via Orphanet 34 G93.4
MeSH 42 D001927

Summaries for Glut1 Deficiency Syndrome 1

OMIM : 54 GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic'... (606777) more...

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, seizures and myoclonus. 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.

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 glut1 deficiency syndrome 2 12.3
2 glucose transporter type 1 deficiency syndrome 11.3

Symptoms & Phenotypes for Glut1 Deficiency Syndrome 1

Symptoms by clinical synopsis from OMIM:

606777

Clinical features from OMIM:

606777

Human phenotypes related to Glut1 Deficiency Syndrome 1:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 myoclonus 32 HP:0001336
4 hemiparesis 32 HP:0001269
5 intellectual disability 32 HP:0001249
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 hyperreflexia 32 HP:0001347
9 eeg abnormality 32 HP:0002353
10 sleep disturbance 32 HP:0002360
11 global developmental delay 32 HP:0001263
12 delayed speech and language development 32 HP:0000750
13 abnormality of metabolism/homeostasis 32 HP:0001939
14 babinski sign 32 HP:0003487
15 paralysis 32 HP:0003470
16 specific learning disability 32 HP:0001328
17 paroxysmal involuntary eye movements 32 HP:0007704
18 choreoathetosis 32 HP:0001266
19 confusion 32 HP:0001289
20 postnatal microcephaly 32 HP:0005484
21 paroxysmal dystonia 32 HP:0002268
22 hypoglycorrhachia 32 HP:0011972
23 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 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Experimental Phase 2 56-81-5 753
2
Benzocaine Approved 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 Citrate Nutraceutical Phase 1
6
Citric Acid Nutraceutical, Vet_approved Phase 1 77-92-9 311
7 Anticoagulants
8 Calcium, Dietary
9 Chelating Agents

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
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) Recruiting NCT02960217 Phase 3
2 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome Recruiting NCT02036853 Phase 2
3 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Recruiting NCT02014883 Phase 2
4 A Clinical Research of Qi Deficiency and Blood Stasis Syndrome (Different Disease With Syndrome) Recruiting NCT02875639 Phase 2
5 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
6 Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Active, not recruiting NCT02000960 Phase 2
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
8 Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D) Not yet recruiting NCT02021526 Phase 1, Phase 2
9 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
10 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) Unknown status NCT02018315 Phase 1
11 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
12 Post Study Continuation of C7 for G1D Available NCT02018302 Phase 1
13 Evaluation of Keyo in Children With Epilepsy Completed NCT02915211
14 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
15 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome Enrolling by invitation NCT02968953
16 Triheptanoin (UX007) to Treat Citrate Transporter Deficiency No longer available NCT02500082

Search NIH Clinical Center for Glut1 Deficiency Syndrome 1

Genetic Tests for Glut1 Deficiency Syndrome 1

Genetic tests related to Glut1 Deficiency Syndrome 1:

id Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 1 29

Anatomical Context for Glut1 Deficiency Syndrome 1

MalaCards organs/tissues related to Glut1 Deficiency Syndrome 1:

39
Eye, Brain

Publications for Glut1 Deficiency Syndrome 1

Variations for Glut1 Deficiency Syndrome 1

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

66 (show all 25)
id 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
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 all 21)
id 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 NM_006516.2(SLC2A1): c.1366A> T (p.Lys456Ter) single nucleotide variant Pathogenic rs80359829 GRCh37 Chromosome 1, 43392825: 43392825
3 SLC2A1 NM_006516.2(SLC2A1): c.1347C> A (p.Tyr449Ter) single nucleotide variant Pathogenic rs80359828 GRCh37 Chromosome 1, 43392844: 43392844
4 SLC2A1 NM_006516.2(SLC2A1): c.272G> A (p.Gly91Asp) single nucleotide variant Pathogenic rs80359814 GRCh37 Chromosome 1, 43396720: 43396720
5 SLC2A1 NM_006516.2(SLC2A1): c.377G> A (p.Arg126His) single nucleotide variant Pathogenic rs80359816 GRCh37 Chromosome 1, 43396436: 43396436
6 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
7 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
8 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
9 SLC2A1 NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs) deletion Pathogenic rs80359838 GRCh37 Chromosome 1, 43394696: 43394697
10 SLC2A1 NM_006516.2(SLC2A1): c.100A> G (p.Asn34Asp) single nucleotide variant Likely pathogenic rs587784390 GRCh37 Chromosome 1, 43408911: 43408911
11 SLC2A1 NM_006516.2(SLC2A1): c.1089delG (p.Trp363Terfs) deletion Pathogenic rs587784391 GRCh37 Chromosome 1, 43393465: 43393465
12 SLC2A1 NM_006516.2(SLC2A1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs587784397 GRCh37 Chromosome 1, 43395284: 43395284
13 SLC2A1 NM_006516.2(SLC2A1): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs587784396 GRCh37 Chromosome 1, 43395383: 43395383
14 SLC2A1 NM_006516.2(SLC2A1): c.19_28delAAGCTGACGG (p.Lys7Valfs) deletion Pathogenic rs587784393 GRCh37 Chromosome 1, 43408983: 43408992
15 SLC2A1 NM_006516.2(SLC2A1): c.1296C> A (p.Tyr432Ter) single nucleotide variant Pathogenic rs75485205 GRCh37 Chromosome 1, 43392895: 43392895
16 SLC2A1 NM_006516.2(SLC2A1): c.907dupG (p.Val303Glyfs) duplication Pathogenic rs796065334 GRCh37 Chromosome 1, 43394946: 43394946
17 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
18 SLC2A1 NM_006516.2(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh37 Chromosome 1, 43395407: 43395407
19 SLC2A1 NM_006516.2(SLC2A1): c.884C> T (p.Thr295Met) single nucleotide variant Pathogenic rs80359823 GRCh37 Chromosome 1, 43394969: 43394969
20 SLC2A1 NM_006516.2(SLC2A1): c.574_575delAT (p.Ile192Hisfs) deletion Pathogenic rs878853161 GRCh37 Chromosome 1, 43395648: 43395649
21 SLC2A1 NM_006516.2(SLC2A1): c.966_967delCG (p.Ser324Alafs) deletion Pathogenic rs886044287 GRCh37 Chromosome 1, 43394886: 43394887

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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