MCID: GLT019
MIFTS: 31

Glut1 Deficiency Syndrome 2

Categories: Genetic 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 57 75 29 13 6
Dystonia 18 57 59 75 73
Dyt18 57 59 75
Ped with or Without Epilepsy and/or Hemolytic Anemia 57 75
Glut1ds2 57 75
Paroxysmal Exercise-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 57
Paroxysmal Exertion-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 75
Paroxysmal Exertion-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 57
Paroxysmal Exercise-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 75
Glut1 Deficiency Syndrome, Type 2, Childhood Onset ) 40
Glut1 Deficiency Syndrome 2, Childhood Onset 57
Childhood Onset Glut1 Deficiency Syndrome 2 12
Paroxysmal Exertion-Induced Dyskinesia 59
Paroxysmal Exercise-Induced Dystonia 75
Dystonia 18; Dyt18 57
Dystonia-18 75
Ped 59

Characteristics:

Orphanet epidemiological data:

59
paroxysmal exertion-induced dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 612126
Disease Ontology 12 DOID:0090045
ICD10 33 G24.8
Orphanet 59 ORPHA98811
UMLS via Orphanet 74 C1842534
ICD10 via Orphanet 34 G24.8
MedGen 42 C1842534
UMLS 73 C1842534

Summaries for Glut1 Deficiency Syndrome 2

OMIM : 57 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 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp and paroxysmal exertion-induced dyskinesia, 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 ataxia and irritability

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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 12.5
2 paroxysmal exertion-induced dyskinesia 11.3
3 paroxysmal choreoathetosis 9.5 PRRT2 SLC2A1
4 early onset absence epilepsy 9.5 PRRT2 SLC2A1
5 dystonia, dopa-responsive 9.4 PRRT2 SLC2A1
6 hemiplegic migraine 9.3 PRRT2 SLC2A1
7 benign epilepsy with centrotemporal spikes 9.2 PRRT2 SLC2A1
8 dystonia 9.0 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glut1 Deficiency Syndrome 2:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 Occasional (29-5%) HP:0001251
2 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
3 dystonia 59 32 Very frequent (99-80%) HP:0001332
4 choreoathetosis 59 32 Very frequent (99-80%) HP:0001266
5 intellectual disability 59 Frequent (79-30%)
6 seizures 59 Frequent (79-30%)
7 chorea 59 Occasional (29-5%)
8 eeg abnormality 32 HP:0002353
9 global developmental delay 32 HP:0001263
10 dyskinesia 32 HP:0100660
11 cognitive impairment 32 HP:0100543
12 intellectual disability, mild 59 Very rare (<4-1%)
13 specific learning disability 59 Occasional (29-5%)
14 migraine 32 occasional (7.5%) HP:0002076
15 paresthesia 59 Frequent (79-30%)
16 absence seizures 59 Frequent (79-30%)
17 reticulocytosis 32 HP:0001923
18 aggressive behavior 59 Occasional (29-5%)
19 involuntary movements 59 Frequent (79-30%)
20 lower limb spasticity 59 Very rare (<4-1%)
21 cerebral atrophy 32 HP:0002059
22 torsion dystonia 59 Frequent (79-30%)
23 hyperactive deep tendon reflexes 59 Frequent (79-30%)
24 paroxysmal dyskinesia 59 Very frequent (99-80%)
25 hypoglycorrhachia 32 HP:0011972

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 Plasticity in Cervical Dystonia Completed NCT00323765
2 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
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 29 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
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. ( 18451999 )
2008

Variations for Glut1 Deficiency Syndrome 2

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

75 (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
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 24)
# 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.940G> A (p.Gly314Ser) single nucleotide variant Pathogenic rs121909739 GRCh38 Chromosome 1, 42929242: 42929242
4 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh37 Chromosome 1, 43395308: 43395308
5 SLC2A1 NM_006516.2(SLC2A1): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs121909740 GRCh38 Chromosome 1, 42929637: 42929637
6 SLC2A1 NM_006516.2(SLC2A1): c.101A> T (p.Asn34Ile) single nucleotide variant Pathogenic rs80359812 GRCh37 Chromosome 1, 43408910: 43408910
7 SLC2A1 NM_006516.2(SLC2A1): c.101A> T (p.Asn34Ile) single nucleotide variant Pathogenic rs80359812 GRCh38 Chromosome 1, 42943239: 42943239
8 SLC2A1 NM_006516.2(SLC2A1): c.283_284delTCinsAT (p.Ser95Ile) indel Pathogenic rs267607060 GRCh37 Chromosome 1, 43396529: 43396530
9 SLC2A1 NM_006516.2(SLC2A1): c.283_284delTCinsAT (p.Ser95Ile) indel Pathogenic rs267607060 GRCh38 Chromosome 1, 42930858: 42930859
10 SLC2A1 NM_006516.2(SLC2A1): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs267607061 GRCh37 Chromosome 1, 43396536: 43396536
11 SLC2A1 NM_006516.2(SLC2A1): c.277C> T (p.Arg93Trp) single nucleotide variant Pathogenic rs267607061 GRCh38 Chromosome 1, 42930865: 42930865
12 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh37 Chromosome 1, 43396437: 43396437
13 SLC2A1 NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 GRCh38 Chromosome 1, 42930766: 42930766
14 SLC2A1 NM_006516.2(SLC2A1): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs202060209 GRCh37 Chromosome 1, 43396718: 43396718
15 SLC2A1 NM_006516.2(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_006516.2(SLC2A1): c.517-1G> C single nucleotide variant Uncertain significance rs869312673 GRCh37 Chromosome 1, 43395707: 43395707
18 SLC2A1 NM_006516.2(SLC2A1): c.517-1G> C single nucleotide variant Uncertain significance rs869312673 GRCh38 Chromosome 1, 42930036: 42930036
19 SLC2A1 NM_006516.2(SLC2A1): c.938C> T (p.Ser313Phe) single nucleotide variant Likely pathogenic rs794727870 GRCh37 Chromosome 1, 43394915: 43394915
20 SLC2A1 NM_006516.2(SLC2A1): c.938C> T (p.Ser313Phe) single nucleotide variant Likely pathogenic rs794727870 GRCh38 Chromosome 1, 42929244: 42929244
21 SLC2A1 NM_006516.2(SLC2A1): c.844_855delCAGCAGCTGTCT (p.Gln282_Ser285del) deletion Pathogenic GRCh38 Chromosome 1, 42929605: 42929616
22 SLC2A1 NM_006516.2(SLC2A1): c.844_855delCAGCAGCTGTCT (p.Gln282_Ser285del) deletion Pathogenic GRCh37 Chromosome 1, 43395276: 43395287
23 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh37 Chromosome 1, 43394617: 43394617
24 SLC2A1 NM_006516.2(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 GRCh38 Chromosome 1, 42928946: 42928946

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

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10 dbSNP
11 DGIdb
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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