GTPS
MCID: GLC024
MIFTS: 32

Glucose Transporter Type 1 Deficiency Syndrome (GTPS) malady

Neuronal diseases, Blood diseases categories

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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21Genetics Home Reference, 63Wikipedia, 19GeneReviews, 32MalaCards
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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: Glucose Transporter Type 1 Deficiency Syndrome, also known as glucose transporter protein syndrome, is related to familial dystonia and pertussis. 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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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

glucose transporter type 1 deficiency syndrome 19 42 20 22 21
glucose transporter protein syndrome 19 42 21
de vivo disease 19 42 21
glucose transport defect, blood-brain barrier 42 21
encephalopathy due to glut1 deficiency 42 21
glut-1 deficiency syndrome 19 42
glut1 deficiency syndrome 21
glut1 deficiency 21
glut1 ds 21
glut1-ds 19
gtps 21
g1d 21


Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Glucose Transporter Type 1 Deficiency Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1familial dystonia10.4
2pertussis10.4
3gtp cyclohydrolase i deficiency10.3
4parkinson's disease10.3
5episodic ataxia10.3
6epilepsy syndrome10.3
7episodic ataxia type 110.3
8glut1 deficiency syndrome 210.2
9cholera10.2
10neuroblastoma10.2
11pancreatitis10.2
12hyperphenylalaninemia10.2
13gtp cyclohydrolase 1-deficient dopa-responsive dystonia10.2
14leukemia10.2
15idiopathic generalized epilepsy10.1
16vitiligo10.1
17lung cancer10.1
18alternating hemiplegia of childhood10.1
19epileptic encephalopathy, early infantile, 110.1
20glut1 deficiency syndrome 110.0
21childhood absence epilepsy10.0
22west syndrome10.0
23early onset absence epilepsy10.0
24hemiplegia10.0
25neurofibromatosis10.0
26acute leukemia10.0
27atherosclerosis10.0
28cervicitis10.0
29myeloid leukemia10.0
30sarcoma10.0
31pheochromocytoma10.0
32gtp cyclohydrolase 1-related disorders10.0
33stroke, ischemic9.9
34burns9.9
35major depressive disorder9.9
36hepatitis c9.9
37bardet-biedl syndrome9.9
38hepatitis e9.9
39acute myeloid leukemia9.9
40juvenile myelomonocytic leukemia9.9
41japanese encephalitis9.9
42differentiating neuroblastoma9.9
43purine nucleoside phosphorylase deficiency9.9
44erythropoietic protoporphyria9.9
45albright's hereditary osteodystrophy9.9
46acute lymphocytic leukemia9.9
47adenocarcinoma9.9
48autosomal dominant disease9.9
49brain disease9.9
50cervical cancer9.9

Graphical network of the top 20 diseases related to Glucose Transporter Type 1 Deficiency Syndrome:



Diseases related to glucose transporter type 1 deficiency syndrome

Clinical Features for Glucose Transporter Type 1 Deficiency Syndrome

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Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Glucose Transporter Type 1 Deficiency Syndrome:

32
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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50PubMed
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Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 14)
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
Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. (15152356)
2004
12
Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review. (12029447)
2002
13
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. (11477212)
2001
14
Glucose Transporter Type 1 Deficiency Syndrome (20301603)
1993

Genetic Variations for Glucose Transporter Type 1 Deficiency Syndrome

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Expression for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet