GLUT1DS2
MCID: GLT019
MIFTS: 32

Glut1 Deficiency Syndrome 2 (GLUT1DS2) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glut1 Deficiency Syndrome 2

Aliases & Descriptions for Glut1 Deficiency Syndrome 2:

Name: Glut1 Deficiency Syndrome 2 54 66 29 13
Dystonia 18 56 66 69
Dyt18 56 66
Paroxysmal Exertion-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 66
Paroxysmal Exercise-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 66
Ped with or Without Epilepsy and/or Hemolytic Anemia 66
Paroxysmal Exertion-Induced Dyskinesia 56
Paroxysmal Exercise-Induced Dystonia 66
Dystonia-18 66
Glut1ds2 66
Ped 56

Characteristics:

Orphanet epidemiological data:

56
paroxysmal exertion-induced dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

HPO:

32
glut1 deficiency syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 612126
Orphanet 56 ORPHA98811
ICD10 via Orphanet 34 G24.8
MedGen 40 C1842534

Summaries for Glut1 Deficiency Syndrome 2

OMIM : 54 GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of... (612126) more...

MalaCards based summary : Glut1 Deficiency Syndrome 2, also known as dystonia 18, is related to paroxysmal exertion-induced dyskinesia and epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp, and has symptoms including ataxia, dystonia and eeg abnormality. An important gene associated with Glut1 Deficiency Syndrome 2 is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Glycerol and Benzocaine have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 GLUT1 deficiency syndrome 2: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.

Related Diseases for Glut1 Deficiency Syndrome 2

Graphical network of the top 20 diseases related to Glut1 Deficiency Syndrome 2:



Diseases related to Glut1 Deficiency Syndrome 2

Symptoms & Phenotypes for Glut1 Deficiency Syndrome 2

Symptoms by clinical synopsis from OMIM:

612126

Clinical features from OMIM:

612126

Human phenotypes related to Glut1 Deficiency Syndrome 2:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 dystonia 32 HP:0001332
3 eeg abnormality 32 HP:0002353
4 global developmental delay 32 HP:0001263
5 dyskinesia 32 HP:0100660
6 cognitive impairment 32 HP:0100543
7 irritability 32 HP:0000737
8 migraine 32 HP:0002076
9 reticulocytosis 32 HP:0001923
10 choreoathetosis 32 HP:0001266
11 cerebral atrophy 32 HP:0002059
12 hypoglycorrhachia 32 HP:0011972

UMLS symptoms related to Glut1 Deficiency Syndrome 2:


action tremor

Drugs & Therapeutics for Glut1 Deficiency Syndrome 2

Drugs for Glut1 Deficiency Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:

(show all 13)
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 of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
11 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
12 Plasticity in Cervical Dystonia Completed NCT00323765
13 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010

Search NIH Clinical Center for Glut1 Deficiency Syndrome 2

Genetic Tests for Glut1 Deficiency Syndrome 2

Genetic tests related to Glut1 Deficiency Syndrome 2:

id Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 2 29
2 Dystonia 18 24 SLC2A1

Anatomical Context for Glut1 Deficiency Syndrome 2

Publications for Glut1 Deficiency Syndrome 2

Variations for Glut1 Deficiency Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Glut1 Deficiency Syndrome 2:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Asn34Ile VAR_054755 rs80359812
2 SLC2A1 p.Arg126Cys VAR_054757 rs80359818
3 SLC2A1 p.Ala275Thr VAR_054761 rs121909740
4 SLC2A1 p.Gly314Ser VAR_054764 rs121909739
5 SLC2A1 p.Arg93Trp VAR_065207 rs267607061
6 SLC2A1 p.Ser95Ile VAR_065208 rs267607060
7 SLC2A1 p.Arg153His VAR_065210 rs794727642
8 SLC2A1 p.Val165Ile VAR_065212
9 SLC2A1 p.Asn317Thr VAR_065218
10 SLC2A1 p.Ser324Leu VAR_065219 rs796053253
11 SLC2A1 p.Arg333Gln VAR_065221
12 SLC2A1 p.Ser294Pro VAR_065784
13 SLC2A1 p.Arg92Trp VAR_069077 rs202060209

ClinVar genetic disease variations for Glut1 Deficiency Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 SLC2A1, 12-BP DEL, NT1022 deletion Pathogenic
2 SLC2A1 NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
3 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
4 SLC2A1 NM_006516.2(SLC2A1): c.101A> T (p.Asn34Ile) single nucleotide variant Pathogenic rs80359812 GRCh37 Chromosome 1, 43408910: 43408910
5 SLC2A1 NM_006516.2(SLC2A1): c.283_284delTCinsAT (p.Ser95Ile) indel Pathogenic rs267607060 GRCh37 Chromosome 1, 43396529: 43396530
6 SLC2A1 NM_006516.2(SLC2A1): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs267607061 GRCh37 Chromosome 1, 43396536: 43396536
7 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
8 SLC2A1 NM_006516.2(SLC2A1): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic/Likely pathogenic rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
9 SLC2A1 SLC2A1, 3-BP INS, TAT insertion Pathogenic
10 SLC2A1 NM_006516.2(SLC2A1): c.938C> T (p.Ser313Phe) single nucleotide variant Likely pathogenic rs794727870 GRCh37 Chromosome 1, 43394915: 43394915

Expression for Glut1 Deficiency Syndrome 2

Search GEO for disease gene expression data for Glut1 Deficiency Syndrome 2.

Pathways for Glut1 Deficiency Syndrome 2

GO Terms for Glut1 Deficiency Syndrome 2

Sources for Glut1 Deficiency Syndrome 2

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
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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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