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GLUT1 deficiency syndrome
GLUT1 deficiency syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CLASSIC GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME
71277
SLC2A1
Unknown
20301603
23890838
Orphanet
HIF-1 signaling pathway
Efferocytosis
Insulin secretion
Thyroid hormone signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Bile secretion
Human T-cell leukemia virus 1 infection
Pathways in cancer
Renal cell carcinoma
Central carbon metabolism in cancer
Diabetic cardiomyopathy
Cellular hexose transport
Vitamin C (ascorbate) metabolism
Regulation of insulin secretion
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
Lactose synthesis
+15 more
GLUT1 deficiency syndrome
SLC2A1
Causal
—
ClinGen
HIF-1 signaling pathway
Efferocytosis
Insulin secretion
Thyroid hormone signaling pathway
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Bile secretion
Human T-cell leukemia virus 1 infection
Pathways in cancer
Renal cell carcinoma
Central carbon metabolism in cancer
Diabetic cardiomyopathy
Cellular hexose transport
Vitamin C (ascorbate) metabolism
Regulation of insulin secretion
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
Lactose synthesis
+15 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
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Diseases that share the most curated genes with GLUT1 deficiency syndrome.
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Chromosome 17q23.1-q23.2 deletion syndrome
1 shared gene
SLC2A1
Related via 1 shared gene including SLC2A1.
Epilepsy with myoclonic absence
1 shared gene
SLC2A1
Related via 1 shared gene including SLC2A1.
Childhood-onset glut1 deficiency syndrome 2
1 shared gene
SLC2A1
Related via 1 shared gene including SLC2A1.
Cryohydrocytosis
1 shared gene
SLC2A1
Related via 1 shared gene including SLC2A1.
Paroxysmal dystonic choreoathetosis
1 shared gene
SLC2A1
Related via 1 shared gene including SLC2A1.
1
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