SLC1A1 gene related symptoms and diseases

All the information presented here about the SLC1A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC1A1 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Drowsiness Uncommon - Between 30% and 50% cases
Cyanosis Uncommon - Between 30% and 50% cases
Febrile seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SLC1A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Gliosis
  • Generalized tonic-clonic seizures
  • Pallor
  • Abnormality of the nervous system
  • Generalized hypotonia
  • Hypoglycemia
  • Seizures
  • Schizophrenia

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to SLC1A1 gene

Here you will find a list of rare diseases related to the SLC1A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DICARBOXYLIC AMINOACIDURIA


Alternate names

DICARBOXYLIC AMINOACIDURIA Is also known as glutamate-aspartate transport defect

Description

Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.

Most common symptoms of DICARBOXYLIC AMINOACIDURIA

  • Intellectual disability
  • Hypoglycemia
  • Nephrolithiasis
  • Aminoaciduria
  • Obsessive-compulsive behavior


More info about DICARBOXYLIC AMINOACIDURIA

SOURCES: ORPHANET OMIM MESH

SCHIZOPHRENIA 18; SCZD18


Alternate names

SCHIZOPHRENIA 18; SCZD18 Is also known as schizophrenia 18 with or without an affective disorder

Most common symptoms of SCHIZOPHRENIA 18; SCZD18

  • Schizophrenia


More info about SCHIZOPHRENIA 18; SCZD18

SOURCES: OMIM

HOT WATER REFLEX EPILEPSY


Alternate names

HOT WATER REFLEX EPILEPSY Is also known as bathing epilepsy, water immersion epilepsy

Description

Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.

Most common symptoms of HOT WATER REFLEX EPILEPSY

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Abnormality of the nervous system


More info about HOT WATER REFLEX EPILEPSY

SOURCES: OMIM ORPHANET


Potential gene panels for SLC1A1 gene

SLC1A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC1A1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ACAT2 AASS RREB1 ANKRD26 HOXD13 GBA2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more