Details of Disease | DrugMAP

General Information of Disease (ID: DISFX0JQ)

Disease Name	Encephalopathy due to GLUT1 deficiency
Synonyms	GLUT1 deficiency syndrome; GLUT1DS1; GLUT1 deficiency syndrome 1, autosomal recessive; glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included; glucose transporter protein syndrome; G1D; GLUT1 DS; glucose transporter type1 (glut-1) deficiency; glucose transport defect, blood-brain barrier; glucose transporter Protein syndrome; glucose Transport defect, blood-brain barrier; glucose transporter type 1 deficiency syndrome; GLUT1 deficiency syndrome 1; glut-1 deficiency syndrome; GLUT1-DS; glucose transporter type 1 deficiency; encephalopathy due to GLUT1 deficiency; De Vivo disease; GLUT1 deficiency syndrome 1, infantile onset, severe; Glucose Transporter Type 1 Deficiency Syndrome; GLUT1 deficiency syndrome type 1
Definition	Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Disease Hierarchy	DIS8OXEB: GLUT1 deficiency syndrome DISFX0JQ: Encephalopathy due to GLUT1 deficiency
Disease Identifiers	MONDO ID MONDO_0011724 UMLS CUI C4551966 OMIM ID 606777 MedGen ID 1645412 Orphanet ID 71277

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	TT79TKF	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	DTG3T6X	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC2A1	OTA675TJ	Definitive	Autosomal dominant	[2]
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References

1	Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.Cell. 2018 Sep 20;175(1):239-253.e17. doi: 10.1016/j.cell.2018.08.019. Epub 2018 Sep 6.
2	Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991 Sep 5;325(10):703-9. doi: 10.1056/NEJM199109053251006.