Glut1 deficiency syndrome 1

Preferred Label : Glut1 deficiency syndrome 1;

Symbol : GLUT1DS1;

CISMeF acronym : GLUT1DS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glucose transport defect, blood-brain barrier;

Included titles and symbols : Glut1 deficiency syndrome 1, autosomal recessive;

Inheritance : Autosomal dominant; Autosomal recessive (rare);

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0001);

Laboratory abnormalities : Hypoglycorrhachia (low glucose in CSF); Low-to-normal CSF lactate; Reduced erythrocyte glucose/hexose transport;

Prefixed ID : #606777;

Détails

Origin ID

606777;

UMLS CUI

C4551966;

Currated CISMeF NLP mapping
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- Encephalopathy due to GLUT1 deficiency [ICD-11 More detail]
- GLUT1 Deficiency Syndrome 1 [NCIt concept]
- Glut1 Deficiency Syndrome [MeSH Supplementary Concept]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Choreoathetosis [HPO term]
- Confusion [HPO term]
- Deceleration of head growth [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- EEG abnormality [HPO term]
- Global developmental delay [HPO term]
- Hemiparesis [HPO term]
- Hyperreflexia [HPO term]
- Hypoglycorrhachia [HPO term]
- Infantile onset [HPO term]
- Infantile seizures [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Microcephaly, acquired [HPO term]
- Myoclonus [HPO term]
- Paralysis [HPO term]
- Paroxysmal dystonia [HPO term]
- Paroxysmal involuntary eye movements [HPO term]
- Paroxysmal lethargy [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
- Specific learning disability [HPO term]
- Speech and language difficulties [HPO term]
ORDO concept(s)
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
See also inter- (CISMeF)
- Glucose transporter protein type 1 deficiency syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic glucose transporter type 1 deficiency syndrome [ORDO Disease]
- GLUT1 Deficiency Syndrome 1 [NCIt concept]
- Glut1 Deficiency Syndrome [MeSH Supplementary Concept]
- Glut1 Deficiency Syndrome [MeSH concept]
- glucose transporter type 1 deficiency syndrome [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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