GTPS
MCID: GLC024
MIFTS: 31

Glucose Transporter Type 1 Deficiency Syndrome (GTPS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases categories

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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22Genetics Home Reference, 66Wikipedia, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).

MalaCards: Glucose Transporter Type 1 Deficiency Syndrome, also known as glucose transporter protein syndrome, is related to dystonia and neuronitis. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1). Affiliated tissues include brain.

Wikipedia:66 De Vivo disease is an autosomal dominant developmental disorder associated with a deficiency of GLUT1... more...

GeneReviews summary for glut1

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Blood diseases


Aliases & Descriptions:

glucose transporter type 1 deficiency syndrome 20 44 21 23 22
glucose transporter protein syndrome 20 44 22
de vivo disease 20 44 22
glucose transport defect, blood-brain barrier 44 22
encephalopathy due to glut1 deficiency 44 22
glut-1 deficiency syndrome 20 44
glut1 deficiency syndrome 44 22
glut1 ds 44 22
glut1 deficiency 22
glut1-ds 20
gtps 22
g1d 22


Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Glucose Transporter Type 1 Deficiency Syndrome:



Diseases related to glucose transporter type 1 deficiency syndrome

Symptoms for Glucose Transporter Type 1 Deficiency Syndrome

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Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Glucose Transporter Type 1 Deficiency Syndrome:

id Genetic test Affiliating Genes
1 Glucose Transporter Type 1 Deficiency Syndrome21 23 SLC2A1

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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34MalaCards
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MalaCards organs/tissues related to Glucose Transporter Type 1 Deficiency Syndrome:

34
Brain

Animal Models for Glucose Transporter Type 1 Deficiency Syndrome or affiliated genes

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Publications for Glucose Transporter Type 1 Deficiency Syndrome

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53PubMed
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Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 12)
idTitleAuthorsYear
1
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. (24200040)
2014
2
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). (23443458)
2013
3
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. (23888468)
2013
4
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. (21838819)
2011
5
Milder phenotypes of glucose transporter type 1 deficiency syndrome. (21649651)
2011
6
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. (21501156)
2011
7
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. (21212456)
2011
8
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. (17869467)
2008
9
Three Japanese patients with glucose transporter type 1 deficiency syndrome. (16949238)
2007
10
Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. (15021248)
2004
11
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. (11477212)
2001
12
Glucose Transporter Type 1 Deficiency Syndrome (20301603)
1993

Variations for Glucose Transporter Type 1 Deficiency Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glucose Transporter Type 1 Deficiency Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC2A1NC_000001.10: g.(43391046-?)_(43424847+?)deldeletionPathogenic/card/glucose_transporter_type_1_deficiency_syndrome
2SLC2A1NM_006516.2(SLC2A1): c.1366A> T (p.Lys456Ter)single nucleotide variantPathogenicrs80359829GRCh37Chr 1, 43392825: 43392825
3SLC2A1NM_006516.2(SLC2A1): c.1347C> A (p.Tyr449Ter)single nucleotide variantPathogenicrs80359828GRCh37Chr 1, 43392844: 43392844
4SLC2A1NM_006516.2(SLC2A1): c.272G> A (p.Gly91Asp)single nucleotide variantPathogenicrs80359814GRCh37Chr 1, 43396720: 43396720
5SLC2A1NM_006516.2(SLC2A1): c.377G> A (p.Arg126His)single nucleotide variantPathogenicrs80359816GRCh37Chr 1, 43396436: 43396436
6SLC2A1NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs80359818GRCh37Chr 1, 43396437: 43396437

Expression for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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Pathways for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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Compounds for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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GO Terms for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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Products for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glucose Transporter Type 1 Deficiency Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet