glucose transporter type 1 deficiency syndrome

Term ID

DOID:0070560

Synonyms

GLUT1DS

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. (3)

References

MESH:C536830
MIM:PS606777
UMLS_CUI:C1847501

Ontology

Human Disease ( DOID:0070560 )

Relationships

is a type of: autosomal genetic disease glucose metabolism disease

autosomal genetic disease glucose metabolism disease Show first 5 Terms
has subtype: dystonia 9 glucose transporter type 1 deficiency syndrome 1 glucose transporter type 1 deficiency syndrome 2

dystonia 9 glucose transporter type 1 deficiency syndrome 1 glucose transporter type 1 deficiency syndrome 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models