MCID: GLC024
MIFTS: 31

Glucose Transporter Type 1 Deficiency Syndrome malady

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

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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Genetics Home Reference:21 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 based summary: Glucose Transporter Type 1 Deficiency Syndrome, also known as de vivo disease, 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 and eye.

Wikipedia:63 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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Glucose Transporter Type 1 Deficiency Syndrome, Aliases & Descriptions:

Name: Glucose Transporter Type 1 Deficiency Syndrome 19 41 21
De Vivo Disease 19 41 21 47 60
Glucose Transporter Type 1 Deficiency 41 20 47 22
Encephalopathy Due to Glut1 Deficiency 41 21 47
Glucose Transporter Protein Syndrome 19 41 21
Glut-1 Deficiency Syndrome 19 41 47
Glut1-Ds 19 41 47
 
Glucose Transport Defect, Blood-Brain Barrier 41 21
Glut1 Deficiency Syndrome 41 21
Glut1 Ds 41 21
Glut1 Deficiency 21
Gtps 21
G1d 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
de vivo disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 71277
ICD10 via Orphanet26 G93.4

Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

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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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Drug clinical trials:

Search ClinicalTrials for Glucose Transporter Type 1 Deficiency Syndrome

Search NIH Clinical Center for Glucose Transporter Type 1 Deficiency Syndrome

Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

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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 Syndrome20 22 SLC2A1

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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

31
Brain, Eye

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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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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Clinvar genetic disease variations for Glucose Transporter Type 1 Deficiency Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLC2A1NC_000001.10: g.(43391046-?)_(43424847+?)deldeletionPathogenic
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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Search GEO for disease gene expression data for Glucose Transporter Type 1 Deficiency Syndrome.

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
  • Proteins
  • Kits and Assays

Sources for Glucose Transporter Type 1 Deficiency Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet