SLC2A1-AS1 gene related symptoms and diseases

All the information presented here about the SLC2A1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC2A1-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Status epilepticus Very Common - Between 80% and 100% cases
Muscle stiffness Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases
Postnatal microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC2A1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Involuntary movements
  • Choreoathetosis
  • Hemiparesis
  • Apraxia
  • Sleep apnea
  • Cyanosis
  • Specific learning disability
  • Epileptic encephalopathy

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SLC2A1-AS1 gene

Here you will find a list of rare diseases related to the SLC2A1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Alternate names

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds, glucose transport defect, blood-brain barrier, glut-1 deficiency syndrome, de vivo disease, glucose transporter type 1 deficiency

Description

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

Most common symptoms of ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

SOURCES: ORPHANET OMIM MESH




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