Details of Disease

General Information of Disease (ID: DIS8OXEB)

Disease Name GLUT1 deficiency syndrome
Synonyms GLUT1DS; GLUT1 deficiency syndrome
Definition An epileptic encephalopathy resulting from impaired glucose transport into the brain.|Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1
Disease Hierarchy
DIS8TFL1: Glucose transport disorder
DISOEVKS: Metabolic epilepsy
DISD715V: Hereditary neurological disease
DIS8OXEB: GLUT1 deficiency syndrome
Disease Identifiers
MONDO ID
MONDO_0000188
MESH ID
C536830
UMLS CUI
C1847501
MedGen ID
337833

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC2A1 DTG3T6X Definitive Autosomal dominant [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OMG OTXA5C6L Strong Genetic Variation [2]
PURA OT975ELW Strong Genetic Variation [3]
STOM OTC8R6EH Strong Genetic Variation [4]
SLC2A1 OTA675TJ Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.Brain Dev. 2011 Apr;33(4):316-20. doi: 10.1016/j.braindev.2010.06.012. Epub 2010 Jul 13.
3 A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?.Mol Genet Metab. 2018 Mar;123(3):331-336. doi: 10.1016/j.ymgme.2017.12.436. Epub 2018 Jan 2.
4 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77. doi: 10.1182/blood-2010-12-326645. Epub 2011 Jul 26.