Disease

glucose transporter type 1 deficiency syndrome

Definition

A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2.

Synonyms

GLUT1DS

Cross References

MESH:C536830
MIM:PS606777

Parent Terms

autosomal genetic disease
glucose metabolism disease

Child Terms

dystonia 9
glucose transporter type 1 deficiency syndrome 1

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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