GLUT1DS2
MCID: GLT019
MIFTS: 34

Glut1 Deficiency Syndrome 2 (GLUT1DS2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glut1 Deficiency Syndrome 2

MalaCards integrated aliases for Glut1 Deficiency Syndrome 2:

Name: Glut1 Deficiency Syndrome 2 58 76 30 13 6
Dystonia 18 58 60 76 74
Dyt18 58 60 76
Ped with or Without Epilepsy and/or Hemolytic Anemia 58 76
Glut1ds2 58 76
Paroxysmal Exercise-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 58
Paroxysmal Exertion-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 76
Paroxysmal Exertion-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 58
Paroxysmal Exercise-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 76
Glut1 Deficiency Syndrome, Type 2, Childhood Onset ) 41
Glut1 Deficiency Syndrome 2, Childhood Onset 58
Childhood Onset Glut1 Deficiency Syndrome 2 12
Paroxysmal Exertion-Induced Dyskinesia 60
Paroxysmal Exercise-Induced Dystonia 76
Dystonia 18; Dyt18 58
Dystonia-18 76
Ped 60

Characteristics:

Orphanet epidemiological data:

60
paroxysmal exertion-induced dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset in childhood
incomplete penetrance
favorable response to a ketogenic diet
allelic disorder to glut1 deficiency syndrome 1


HPO:

33
glut1 deficiency syndrome 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090045
OMIM 58 612126
ICD10 34 G24.8
ICD10 via Orphanet 35 G24.8
UMLS via Orphanet 75 C1842534
Orphanet 60 ORPHA98811
MedGen 43 C1842534
UMLS 74 C1842534

Summaries for Glut1 Deficiency Syndrome 2

OMIM : 58 GLUT1 deficiency syndrome-2 is an autosomal dominant 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, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia (Weber et al., 2008). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. 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. GLUT1 deficiency syndrome-1 (606777) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009). (612126)

MalaCards based summary : Glut1 Deficiency Syndrome 2, also known as dystonia 18, is related to dystonia and epilepsy, and has symptoms including action tremor An important gene associated with Glut1 Deficiency Syndrome 2 is SLC2A1 (Solute Carrier Family 2 Member 1). Related phenotypes are irritability and migraine

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 76 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

Diseases related to Glut1 Deficiency Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.5 PRRT2 SLC2A1
2 epilepsy 29.8 PRRT2 SLC2A1
3 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 12.7
4 convulsions, familial infantile, with paroxysmal choreoathetosis 11.5
5 paroxysmal exertion-induced dyskinesia 11.5
6 episodic kinesigenic dyskinesia 1 11.4
7 glut1 deficiency syndrome 1 11.3
8 periodontal ehlers-danlos syndrome 11.1
9 diarrhea 10.4
10 lung cancer 10.2
11 eating disorder 10.2
12 hemolytic anemia 10.1
13 small cell cancer of the lung 10.1
14 3-methylglutaconic aciduria, type iii 10.1
15 pyruvate dehydrogenase e1-beta deficiency 10.1
16 insulinoma 10.1
17 hypoglycemia 10.1
18 hepatocellular carcinoma 10.0
19 bulimia nervosa 10.0
20 chronic kidney failure 10.0
21 diabetes mellitus 10.0
22 kidney disease 10.0
23 glioma 10.0
24 breast cancer 9.9
25 diaphragmatic hernia, congenital 9.9
26 prostate cancer 9.9
27 triiodothyronine receptor auxiliary protein 9.9
28 prostate cancer, hereditary, 8 9.9
29 dermatitis, atopic 9.9
30 prostate cancer, hereditary, 6 9.9
31 muscle hypertrophy 9.9
32 deficiency anemia 9.9
33 leukemia 9.9
34 polycystic ovary syndrome 9.9
35 restless legs syndrome 9.9
36 vitamin b12 deficiency 9.9
37 inguinal hernia 9.9
38 amnestic disorder 9.9
39 iron metabolism disease 9.9
40 dermatitis 9.9
41 antiphospholipid syndrome 9.9
42 bronchitis 9.9
43 myeloid leukemia 9.9
44 dysphagia 9.9
45 paroxysmal choreoathetosis 9.8 PRRT2 SLC2A1
46 early onset absence epilepsy 9.8 PRRT2 SLC2A1
47 dystonia, dopa-responsive 9.7 PRRT2 SLC2A1
48 hemiplegic migraine 9.7 PRRT2 SLC2A1
49 visual epilepsy 9.6 PRRT2 SLC2A1
50 benign epilepsy with centrotemporal spikes 9.5 PRRT2 SLC2A1

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

Human phenotypes related to Glut1 Deficiency Syndrome 2:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737
2 migraine 33 occasional (7.5%) HP:0002076
3 ataxia 60 33 Occasional (29-5%) HP:0001251
4 dystonia 60 33 Very frequent (99-80%) HP:0001332
5 choreoathetosis 60 33 Very frequent (99-80%) HP:0001266
6 intellectual disability 60 Frequent (79-30%)
7 seizures 60 Frequent (79-30%)
8 tremor 33 HP:0001337
9 chorea 60 Occasional (29-5%)
10 eeg abnormality 33 HP:0002353
11 global developmental delay 33 HP:0001263
12 dyskinesia 33 HP:0100660
13 cognitive impairment 33 HP:0100543
14 intellectual disability, mild 60 Very rare (<4-1%)
15 specific learning disability 60 Occasional (29-5%)
16 paresthesia 60 Frequent (79-30%)
17 absence seizures 60 Frequent (79-30%)
18 aggressive behavior 60 Occasional (29-5%)
19 reticulocytosis 33 HP:0001923
20 involuntary movements 60 Frequent (79-30%)
21 lower limb spasticity 60 Very rare (<4-1%)
22 cerebral atrophy 33 HP:0002059
23 torsion dystonia 60 Frequent (79-30%)
24 hyperactive deep tendon reflexes 60 Frequent (79-30%)
25 paroxysmal dyskinesia 60 Very frequent (99-80%)
26 hypoglycorrhachia 33 HP:0011972

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cognitive impairment
choreoathetosis
cerebral atrophy
delayed psychomotor development
eeg abnormalities
more
Laboratory Abnormalities:
hypoglycorrhachia (low glucose in csf)
low-to-normal csf lactate
increased serum bilirubin due to hemolysis

Hematology:
reticulocytosis
echinocytes
macrocytic hemolytic anemia, appears in infancy (in 1 family)
erythrocytes have defects in cation permeability

Neurologic Behavioral Psychiatric Manifestations:
irritability (in 1 family)

Clinical features from OMIM:

612126

UMLS symptoms related to Glut1 Deficiency Syndrome 2:


action tremor

Drugs & Therapeutics for Glut1 Deficiency Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
2 Plasticity in Cervical Dystonia Completed NCT00323765
3 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:

# Genetic test Affiliating Genes
1 Glut1 Deficiency Syndrome 2 30 SLC2A1

Anatomical Context for Glut1 Deficiency Syndrome 2

Publications for Glut1 Deficiency Syndrome 2

Articles related to Glut1 Deficiency Syndrome 2:

# Title Authors Year
1
A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia. ( 30852237 )
2019

Variations for Glut1 Deficiency Syndrome 2

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

76 (show all 13)
# 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 rs105752054
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 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 SLC2A1, 12-BP DEL, NT1022 deletion Pathogenic
2 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh37 Chromosome 1, 43394913: 43394913
3 SLC2A1 NM_006516.3(SLC2A1): c.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
4 SLC2A1 NM_006516.3(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
5 SLC2A1 NM_006516.3(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh38 Chromosome 1, 42929637: 42929637
6 SLC2A1 NM_006516.3(SLC2A1): c.101A> T (p.Asn34Ile) single nucleotide variant Pathogenic rs80359812 GRCh37 Chromosome 1, 43408910: 43408910
7 SLC2A1 NM_006516.3(SLC2A1): c.101A> T (p.Asn34Ile) single nucleotide variant Pathogenic rs80359812 GRCh38 Chromosome 1, 42943239: 42943239
8 SLC2A1 NM_006516.3(SLC2A1): c.283_284delTCinsAT (p.Ser95Ile) indel Pathogenic rs267607060 GRCh37 Chromosome 1, 43396529: 43396530
9 SLC2A1 NM_006516.3(SLC2A1): c.283_284delTCinsAT (p.Ser95Ile) indel Pathogenic rs267607060 GRCh38 Chromosome 1, 42930858: 42930859
10 SLC2A1 NM_006516.3(SLC2A1): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs267607061 GRCh37 Chromosome 1, 43396536: 43396536
11 SLC2A1 NM_006516.3(SLC2A1): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs267607061 GRCh38 Chromosome 1, 42930865: 42930865
12 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
13 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
14 SLC2A1 NM_006516.3(SLC2A1): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
15 SLC2A1 NM_006516.3(SLC2A1): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs202060209 GRCh38 Chromosome 1, 42931047: 42931047
16 SLC2A1 SLC2A1, 3-BP INS, TAT insertion Pathogenic
17 SLC2A1 NM_006516.3(SLC2A1): c.517-1G> C single nucleotide variant Uncertain significance rs869312673 GRCh37 Chromosome 1, 43395707: 43395707
18 SLC2A1 NM_006516.3(SLC2A1): c.517-1G> C single nucleotide variant Uncertain significance rs869312673 GRCh38 Chromosome 1, 42930036: 42930036
19 SLC2A1 NM_006516.3(SLC2A1): c.938C> T (p.Ser313Phe) single nucleotide variant Likely pathogenic rs794727870 GRCh37 Chromosome 1, 43394915: 43394915
20 SLC2A1 NM_006516.3(SLC2A1): c.938C> T (p.Ser313Phe) single nucleotide variant Likely pathogenic rs794727870 GRCh38 Chromosome 1, 42929244: 42929244
21 SLC2A1 NM_006516.3(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 GRCh38 Chromosome 1, 42930830: 42930830
22 SLC2A1 NM_006516.3(SLC2A1): c.312C> G (p.Phe104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs76672402 GRCh37 Chromosome 1, 43396501: 43396501
23 SLC2A1 NM_006516.2(SLC2A1): c.844_855delCAGCAGCTGTCT (p.Gln282_Ser285del) deletion Pathogenic rs1553156047 GRCh38 Chromosome 1, 42929605: 42929616
24 SLC2A1 NM_006516.2(SLC2A1): c.844_855delCAGCAGCTGTCT (p.Gln282_Ser285del) deletion Pathogenic rs1553156047 GRCh37 Chromosome 1, 43395276: 43395287
25 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
26 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946
27 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh37 Chromosome 1, 43396831: 43396831
28 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55Glufs) duplication Pathogenic GRCh38 Chromosome 1, 42931160: 42931160

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

Cellular components related to Glut1 Deficiency Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.62 PRRT2 SLC2A1

Sources for Glut1 Deficiency Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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