FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glucose transporter type 1 deficiency syndrome ID (Ontology) DOID:0070560 (Human Disease)
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.
Also Known As "GLUT1DS"
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monogenic disease
 |__autosomal genetic disease____
carbohydrate metabolic disorder  |
 |__glucose metabolism disease___|
                                 glucose transporter type 1 deficiency syndrome  5 rec.
                                  |__dystonia 9 5 rec.
                                  |__glucose transporter type 1 deficiency syndrome 1 5 rec.
                                  |__glucose transporter type 1 deficiency syndrome 2 5 rec.
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Is a autosomal genetic disease
glucose metabolism disease
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Synonyms
  • "GLUT1DS" EXACT OMO:0003012
Secondary IDs
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MESH:C536830
MIM:PS606777
UMLS_CUI:C1847501