Glut1 deficiency syndrome 2

Preferred Label : Glut1 deficiency syndrome 2;

Symbol : GLUT1DS2;

CISMeF acronym : DYT18; GLUT1DS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DYT18; Dystonia 18; Paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia; Paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia; Ped with or without epilepsy and/or hemolytic anemia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0008);

Laboratory abnormalities : Low-to-normal CSF lactate; Hypoglycorrhachia (low glucose in CSF); Increased serum bilirubin due to hemolysis;

Prefixed ID : #612126;

Details

Origin ID

612126;

UMLS CUI

C1842534;

Automatic exact mappings (from CISMeF team)
- Paroxysmal exertion-induced dyskinesia [ORDO Disease]
- Paroxysmal exertion-induced dyskinesia (disorder) [SNOMED CT concept]
- dystonia 18 [MeSH concept]
- dystonia 18 [MeSH Supplementary Concept]
- solute carrier family 2 member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- childhood onset GLUT1 deficiency syndrome 2 [DO Concept]
DO Cross reference
- childhood onset GLUT1 deficiency syndrome 2 [DO Concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Cognitive impairment [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Global developmental delay [HPO term]
- Hypoglycorrhachia [HPO term]
- Incomplete penetrance [HPO term]
- Irritability [HPO term]
- Migraine [HPO term]
- Reticulocytosis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Paroxysmal exertion-induced dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paroxysmal exertion-induced dyskinesia [ORDO Disease]
- Paroxysmal exertion-induced dyskinesia (disorder) [SNOMED CT concept]
- dystonia 18 [MeSH Supplementary Concept]
- dystonia 18 [MeSH concept]

Keyword's position in hierarchy(ies) :

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