GLUT1DS2
MCID: GLT019
MIFTS: 40

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 56 73 29 13 6
Dystonia 18 56 58 73 71
Dyt18 56 58 73
Ped with or Without Epilepsy and/or Hemolytic Anemia 56 73
Glut1ds2 56 73
Paroxysmal Exercise-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 56
Paroxysmal Exertion-Induced Dyskinesia with or Without Epilepsy and/or Hemolytic Anemia 73
Paroxysmal Exertion-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 56
Paroxysmal Exercise-Induced Dystonia with or Without Epilepsy and/or Hemolytic Anemia 73
Glut1 Deficiency Syndrome, Type 2, Childhood Onset 39
Glut1 Deficiency Syndrome 2, Childhood Onset 56
Childhood Onset Glut1 Deficiency Syndrome 2 12
Paroxysmal Exertion-Induced Dyskinesia 58
Paroxysmal Exercise-Induced Dystonia 73
Dystonia 18; Dyt18 56
Dystonia-18 73
Ped 58

Characteristics:

Orphanet epidemiological data:

58
paroxysmal exertion-induced dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

56
Miscellaneous:
incomplete penetrance
highly variable phenotype
onset in childhood
favorable response to a ketogenic diet
allelic disorder to glut1 deficiency syndrome 1

Inheritance:
autosomal dominant


HPO:

31
glut1 deficiency syndrome 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090045
OMIM 56 612126
OMIM Phenotypic Series 56 PS128100 PS606777
ICD10 32 G24.8
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C1842534
Orphanet 58 ORPHA98811
MedGen 41 C1842534
UMLS 71 C1842534

Summaries for Glut1 Deficiency Syndrome 2

OMIM : 56 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 paroxysmal choreoathetosis, and has symptoms including action tremor An important gene associated with Glut1 Deficiency Syndrome 2 is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain and thalamus, and related phenotypes are irritability and migraine

Disease Ontology : 12 A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has material basis in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.

UniProtKB/Swiss-Prot : 73 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 top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 dystonia 30.6 SLC2A1 PRRT2
2 paroxysmal choreoathetosis 29.9 SLC2A1 PRRT2
3 epilepsy 29.7 SLC2A1 PRRT2
4 movement disease 29.6 SLC2A1 PRRT2
5 benign epilepsy with centrotemporal spikes 29.5 SLC2A1 PRRT2
6 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 13.2
7 periodontal ehlers-danlos syndrome 11.8
8 convulsions, familial infantile, with paroxysmal choreoathetosis 11.6
9 paroxysmal exertion-induced dyskinesia 11.6
10 glut1 deficiency syndrome 1 11.4
11 glucose transporter type 1 deficiency syndrome 11.2
12 diarrhea 10.5
13 paroxysmal dystonia 10.3
14 bulimia nervosa 10.3
15 polycystic ovary syndrome 10.3
16 eating disorder 10.3
17 aneurysm 10.3
18 paroxysmal dyskinesia 10.3
19 chronic kidney disease 10.2
20 hepatitis c 10.2
21 kidney disease 10.2
22 pulmonary embolism 10.2
23 episodic kinesigenic dyskinesia 1 10.1
24 migraine with or without aura 1 10.1
25 quadriplegia 10.1
26 hemolytic anemia 10.1
27 3-methylglutaconic aciduria, type iii 10.1
28 pyruvate dehydrogenase e1-beta deficiency 10.1
29 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 10.1
30 restless legs syndrome 10.1
31 familial hemiplegic migraine 10.1
32 migraine without aura 10.1
33 lactic acidosis 10.1
34 plexopathy 10.1
35 insulinoma 10.1
36 hypoglycemia 10.1
37 familial paroxysmal nonkinesigenic dyskinesia 10.1
38 hereditary dystonia 10.1
39 disorder of energy metabolism 10.1
40 small cell cancer of the lung 10.1
41 lung cancer 10.1
42 macular degeneration, age-related, 1 10.1
43 bronchitis 10.1
44 diabetes mellitus 10.1
45 glioma 10.1
46 glial tumor 10.1
47 breast cancer 9.9
48 hepatocellular carcinoma 9.9
49 diabetes mellitus, noninsulin-dependent 9.9
50 esophageal cancer 9.9

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
2 migraine 31 occasional (7.5%) HP:0002076
3 ataxia 58 31 Occasional (29-5%) HP:0001251
4 dystonia 58 31 Very frequent (99-80%) HP:0001332
5 choreoathetosis 58 31 Very frequent (99-80%) HP:0001266
6 intellectual disability 58 Frequent (79-30%)
7 global developmental delay 31 HP:0001263
8 seizures 58 Frequent (79-30%)
9 dyskinesia 31 HP:0100660
10 eeg abnormality 31 HP:0002353
11 cognitive impairment 31 HP:0100543
12 intellectual disability, mild 58 Very rare (<4-1%)
13 tremor 31 HP:0001337
14 specific learning disability 58 Occasional (29-5%)
15 paresthesia 58 Frequent (79-30%)
16 involuntary movements 58 Frequent (79-30%)
17 chorea 58 Occasional (29-5%)
18 reticulocytosis 31 HP:0001923
19 cerebral atrophy 31 HP:0002059
20 aggressive behavior 58 Occasional (29-5%)
21 hyperactive deep tendon reflexes 58 Frequent (79-30%)
22 lower limb spasticity 58 Very rare (<4-1%)
23 torsion dystonia 58 Frequent (79-30%)
24 absence seizure 58 Frequent (79-30%)
25 hypoglycorrhachia 31 HP:0011972
26 paroxysmal dyskinesia 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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 The Effect of Peripheral Heterotopic Stimulation on Cortical Excitability in 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 29 SLC2A1

Anatomical Context for Glut1 Deficiency Syndrome 2

MalaCards organs/tissues related to Glut1 Deficiency Syndrome 2:

40
Brain, Thalamus

Publications for Glut1 Deficiency Syndrome 2

Articles related to Glut1 Deficiency Syndrome 2:

(show all 32)
# Title Authors PMID Year
1
Glut1 deficiency and alternating hemiplegia of childhood. 6 56
19996082 2009
2
Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 6 56
19901175 2009
3
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 6 56
19630075 2009
4
GLUT1 deficiency without epilepsy: yet another case. 56 6
18403583 2008
5
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 6 56
18577546 2008
6
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 56 6
18606970 2008
7
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 6 56
18451999 2008
8
GLUT-1 deficiency without epilepsy--an exceptional case. 56 6
14605501 2003
9
Glucose Transporter Type 1 Deficiency Syndrome 6 61
20301603 2002
10
Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 56
26336901 2016
11
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 6
21832227 2011
12
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. 56
21229316 2011
13
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 56
20574033 2010
14
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 6
19798636 2009
15
The expanding phenotype of GLUT1-deficiency syndrome. 56
19304421 2009
16
New family with paroxysmal exercise-induced dystonia and epilepsy. 56
17290464 2007
17
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. 56
15622525 2005
18
GLUT1 deficiency and other glucose transporter diseases. 56
15132717 2004
19
Hereditary Dystonia Overview 6
20301334 2003
20
Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. 56
11076005 2000
21
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 56
10766892 2000
22
Familial paroxysmal dystonia induced by exercise. 56
6707673 1984
23
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 61
29436738 2018
24
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
25
Exploratory structural assessment in craniocervical dystonia: Global and differential analyses. 61
28829782 2017
26
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. 61
27647704 2017
27
Adverse events in deep brain stimulation: A retrospective long-term analysis of neurological, psychiatric and other occurrences. 61
28678830 2017
28
High rates of fatigue and sleep disturbances in dystonia. 61
26289935 2016
29
Accuracy of stimulating electrode placement in paediatric pallidal deep brain stimulation for primary and secondary dystonia. 61
23430231 2013
30
'Ivory wave' toxicity in recreational drug users; integration of clinical and poisons information services to manage legal high poisoning. 61
22224933 2012
31
[Clinico-pathomorphologic correlations in patients with symptomatic dystonias]. 61
12395440 2002
32
Movement disorders following lesions of the thalamus or subthalamic region. 61
7990845 1994

Variations for Glut1 Deficiency Syndrome 2

ClinVar genetic disease variations for Glut1 Deficiency Syndrome 2:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1):c.844_855del (p.Gln282_Ser285del)deletion Pathogenic 433186 rs1553156047 1:43395276-43395287 1:42929605-42929616
2 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs)duplication Pathogenic 619980 rs1557646867 1:43396830-43396831 1:42931159-42931160
3 SLC2A1 SLC2A1, 12-BP DEL, NT1022deletion Pathogenic 16112
4 SLC2A1 NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser)SNV Pathogenic 16113 rs121909739 1:43394913-43394913 1:42929242-42929242
5 SLC2A1 NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr)SNV Pathogenic 16114 rs121909740 1:43395308-43395308 1:42929637-42929637
6 SLC2A1 NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile)SNV Pathogenic 16115 rs80359812 1:43408910-43408910 1:42943239-42943239
7 SLC2A1 NM_006516.3(SLC2A1):c.283_284delinsAT (p.Ser95Ile)indel Pathogenic 16116 rs267607060 1:43396529-43396530 1:42930858-42930859
8 SLC2A1 NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp)SNV Pathogenic 16117 rs267607061 1:43396536-43396536 1:42930865-42930865
9 SLC2A1 SLC2A1, 3-BP INS, TATinsertion Pathogenic 29723
10 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)SNV Pathogenic 207196 rs80359826 1:43394689-43394689 1:42929018-42929018
11 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp)SNV Pathogenic 207193 rs796053248 1:43395556-43395556 1:42929885-42929885
12 SLC2A1 NM_006516.3(SLC2A1):c.19-2A>GSNV Pathogenic 207225 rs796053272 1:43408994-43408994 1:42943323-42943323
13 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp)SNV Pathogenic/Likely pathogenic 96708 rs13306758 1:43392819-43392819 1:42927148-42927148
14 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp)SNV Pathogenic/Likely pathogenic 198842 rs80359825 1:43394680-43394680 1:42929009-42929009
15 SLC2A1 NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys)SNV Pathogenic/Likely pathogenic 16118 rs80359818 1:43396437-43396437 1:42930766-42930766
16 SLC2A1 NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp)SNV Pathogenic/Likely pathogenic 16119 rs202060209 1:43396718-43396718 1:42931047-42931047
17 SLC2A1 NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)SNV Likely pathogenic 812510 1:43392891-43392891 1:42927220-42927220
18 SLC2A1 NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)SNV Likely pathogenic 870347 1:43394924-43394924 1:42929253-42929253
19 SLC2A1 NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe)SNV Likely pathogenic 224104 rs794727870 1:43394915-43394915 1:42929244-42929244
20 SLC2A1 NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu)SNV Conflicting interpretations of pathogenicity 297381 rs76672402 1:43396501-43396501 1:42930830-42930830
21 SLC2A1 NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr)SNV Conflicting interpretations of pathogenicity 198843 rs141619735 1:43394661-43394661 1:42928990-42928990
22 SLC2A1 NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=)SNV Conflicting interpretations of pathogenicity 212203 rs75852730 1:43392796-43392796 1:42927125-42927125
23 SLC2A1 NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met)SNV Conflicting interpretations of pathogenicity 406880 rs200828053 1:43396804-43396804 1:42931133-42931133
24 SLC2A1 NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)SNV Uncertain significance 828198 1:43395622-43395622 1:42929951-42929951
25 SLC2A1 NM_006516.3(SLC2A1):c.192C>G (p.Leu64=)SNV Uncertain significance 626018 rs762583668 1:43396800-43396800 1:42931129-42931129
26 SLC2A1 NM_006516.3(SLC2A1):c.75G>A (p.Gln25=)SNV Uncertain significance 626019 rs1557651193 1:43408936-43408936 1:42943265-42943265
27 SLC2A1 NM_006516.3(SLC2A1):c.517-1G>CSNV Uncertain significance 224090 rs869312673 1:43395707-43395707 1:42930036-42930036
28 SLC2A1 NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr)SNV not provided 441137 rs780529723 1:43394617-43394617 1:42928946-42928946

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

73 (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 rs155315598
12 SLC2A1 p.Ser294Pro VAR_065784
13 SLC2A1 p.Arg92Trp VAR_069077 rs202060209

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 8.96 SLC2A1 PRRT2
2 presynapse GO:0098793 8.62 SLC2A1 PRRT2

Sources for Glut1 Deficiency Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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