GLUD2 gene related symptoms and diseases
All the information presented here about the GLUD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GLUD2 gene
Symptoms // Phenotype | % Cases |
---|---|
Ataxia | Very Common - Between 80% and 100% cases |
Hallucinations | Very Common - Between 80% and 100% cases |
Short stepped shuffling gait | Very Common - Between 80% and 100% cases |
Substantia nigra gliosis | Very Common - Between 80% and 100% cases |
Weak voice | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GLUD2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Kinetic tremor
- Lewy bodies
- Frontotemporal dementia
- Orthostatic hypotension
- Resting tremor
- Urinary urgency
- Alzheimer disease
- Mask-like facies
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GLUD2 gene
Here you will find a list of rare diseases related to the GLUD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARKINSON DISEASE, LATE-ONSET; PD
Alternate names
PARKINSON DISEASE, LATE-ONSET; PD Is also known as park
Description
Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996).
Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD
- Ataxia
- Cognitive impairment
- Dysarthria
- Tremor
- Dysphagia
More info about PARKINSON DISEASE, LATE-ONSET; PD
SOURCES: OMIM
Search interest in GLUD2
Potential gene panels for GLUD2 gene
GLUD2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLUD2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like P3H2 BCL6 GATA2 NBAS SCN9A SMAD6 IRS2