GLUT1 Deficiency Syndrome 1

Preferred Label : GLUT1 Deficiency Syndrome 1;

NCIt synonyms : GLUT1DS1;

NCIt definition : A genetic condition usually inherited in an autosomal dominant pattern. It is caused by mutation(s) in the SCL2A1 gene, encoding solute carrier family 2, facilitated glucose transporter member 1. It is characterized by wide phenotypic variability, but may include infantile onset epileptic encephalopathy with delayed development, acquired microcephaly, motor dysfunction, and spasticity.;

Details

Origin ID

C168599;

UMLS CUI

C4551966;

Currated CISMeF NLP mapping
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- Glucose transporter type 1 deficiency syndrome [MedDRA Preferred Term]
- Glut1 deficiency syndrome 1 [OMIM Phenotype]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]
See also inter- (CISMeF)
- Glut1 Deficiency Syndrome [MeSH concept]
- Glut1 Deficiency Syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- Glucose transporter type 1 deficiency syndrome [MedDRA Preferred Term]
- Glut1 Deficiency Syndrome [MeSH Supplementary Concept]
- Glut1 Deficiency Syndrome [MeSH concept]
- Glut1 deficiency syndrome 1 [OMIM Phenotype]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Glucose transporter protein type 1 deficiency syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SLC2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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