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 2 ID (Ontology) DOID:0090045 (Human Disease)
Definition A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
Also Known As "childhood-onset GLUT1 deficiency syndrome 2" ; "dystonia 18" ; "DYT18" (for all, see Synonyms field below)
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 Genes
 glucose transporter type 1 deficiency syndrome 2       5
 for disease ribbon | glucose transporter type 1 deficiency syndrome 2       5
 model of | glucose transporter type 1 deficiency syndrome 2       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______________________
 |__glucose transporter type 1 deficiency syndrome__|
glucose metabolism disease                          |
 |__glucose transporter type 1 deficiency syndrome__|
movement disease                                    |
 |__dystonia________________________________________|
                                                    glucose transporter type 1 deficiency syndrome 2  5 rec.
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Is a autosomal dominant disease
glucose transporter type 1 deficiency syndrome
dystonia
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Synonyms
  • "childhood-onset GLUT1 deficiency syndrome 2" EXACT
    "dystonia 18" EXACT
    "DYT18" EXACT OMO:0003012
    "GLUT1 deficiency syndrome 2" EXACT
    "GLUT1DS2" EXACT OMO:0003012
    "paroxysmal exercise-induced dyskinesia" BROAD
    "paroxysmal exertion-induced dyskinesia" BROAD
    "PED" BROAD OMO:0003012
Secondary IDs
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GARD:10541
ICD10CM:G24.8
MESH:C564288
MIM:612126
ORDO:98811
UMLS_CUI:C1842534