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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:GLUT1 Deficiency Syndrome
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Accession:DOID:9007802 term browser browse the term
Definition:The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a wide spectrum of neurologic phenotype variability, including cognitive impairment and movement problems.
Synonyms:exact_synonym: De Vivo disease;   Encephalopathy Due To Glut1 Deficiency;   GLUT1 deficiency syndrome 1;   GLUT1DS;   GLUT1DS1;   Glucose Transporter Protein Syndrome;   Glucose Transporter Type 1 Deficiency Syndrome;   Glucose transport defect, blood-brain barrier;   Glucose transporter type1 (GLUT-1) deficiency;   PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER
 related_synonym: GLUT1 deficiency syndrome 1, autosomal recessive
 primary_id: MESH:C536830
 alt_id: OMIM:606777
 xref: NCI:C168599;   ORDO:71277
For additional species annotation, visit the Alliance of Genome Resources.



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GLUT1 Deficiency Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659
JBrowse link
G RGD1564804 similar to chromosome 1 open reading frame 50 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,837,135...132,841,744
Ensembl chr 5:132,836,506...132,841,762
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome
ClinVar Annotator: match by term: Glut1 deficiency syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:deletions: :multiple
ClinVar Annotator: match by term: Glucose transporter protein syndrome
ClinVar
OMIM
CTD
RGD
PMID:2344855 PMID:8808284 PMID:9335548 PMID:9462754 PMID:9536098 More... RGD:1624245, RGD:12879464, RGD:12879473, RGD:12879476 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,808,021...132,813,735
Ensembl chr 5:132,808,204...132,813,735
JBrowse link
G Zfp691 zinc finger protein 691 ISO ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive ClinVar PMID:11477212 PMID:20382060 PMID:21832227 PMID:26193382 PMID:28492532 NCBI chr 5:132,780,259...132,784,954
Ensembl chr 5:132,780,181...132,785,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      GLUT1 Deficiency Syndrome 6
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            carbohydrate metabolic disorder 530
              GLUT1 Deficiency Syndrome 6
paths to the root