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 1 ID (Ontology) DOID:0070561 (Human Disease)
Definition A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.
Also Known As "classic glucose transporter type 1 deficiency syndrome" ; "classic GLUT1 deficiency syndrome" ; "classic GLUT1-DS" (for all, see Synonyms field below)
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 Genes
 glucose transporter type 1 deficiency syndrome 1       5
 for disease ribbon | glucose transporter type 1 deficiency syndrome 1       5
 model of | glucose transporter type 1 deficiency syndrome 1       5
Spanning Tree (Parents/Children)
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autosomal genetic disease___
glucose metabolism disease__|
                            glucose transporter type 1 deficiency syndrome
                             |__glucose transporter type 1 deficiency syndrome 1  5 rec.
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Is a glucose transporter type 1 deficiency syndrome
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Synonyms
  • "classic glucose transporter type 1 deficiency syndrome" EXACT
    "classic GLUT1 deficiency syndrome" EXACT
    "classic GLUT1-DS" EXACT
    "De Vivo disease" EXACT
    "encephalopathy due to GLUT1 deficiency" EXACT
    "GLUT1 deficiency syndrome 1" EXACT
    "GLUT1DS1" EXACT OMO:0003012
Secondary IDs
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GARD:9265
MIM:606777
ORDO:71277
UMLS_CUI:C4551966