SLC2A3 gene related symptoms and diseases
All the information presented here about the SLC2A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC2A3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Spasticity | Very Common - Between 80% and 100% cases |
| Behavioral abnormality | Very Common - Between 80% and 100% cases |
| Dementia | Very Common - Between 80% and 100% cases |
| Cerebral cortical atrophy | Very Common - Between 80% and 100% cases |
| EEG abnormality | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC2A3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Developmental regression
- Abnormality of movement
- Abnormality of the voice
Rare diseases associated to SLC2A3 gene
Here you will find a list of rare diseases related to the SLC2A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HUNTINGTON DISEASE
Alternate names
HUNTINGTON DISEASE Is also known as huntington chorea
Description
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Most common symptoms of HUNTINGTON DISEASE
- Spasticity
- Behavioral abnormality
- Dementia
- Cerebral cortical atrophy
- EEG abnormality
More info about HUNTINGTON DISEASE
SOURCES: ORPHANET
Search interest in SLC2A3
Potential gene panels for SLC2A3 gene
SLC2A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC2A3 gene.
More info about this panel United States.
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