CDC42BPA gene related symptoms and diseases
All the information presented here about the CDC42BPA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDC42BPA gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Brisk reflexes | Very Common - Between 80% and 100% cases |
Lactic acidosis | Very Common - Between 80% and 100% cases |
Progressive cerebellar ataxia | Very Common - Between 80% and 100% cases |
Increased serum lactate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDC42BPA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gynecomastia
- EMG abnormality
- Exercise intolerance
- Neurodevelopmental delay
- Abnormal pyramidal sign
- Axonal degeneration
- Central hypotonia
- Increased CSF lactate
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDC42BPA gene
Here you will find a list of rare diseases related to the CDC42BPA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY
Alternate names
AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2, autosomal recessive cerebellar ataxia type 2, spinocerebellar ataxia, autosomal recessive 9, scar9, autosomal recessive ataxia due to coenzyme q10 deficiency, autosomal recessive spinocerebellar ataxia type 9
Description
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.
Most common symptoms of AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY
Search interest in CDC42BPA
Potential gene panels for CDC42BPA gene
CDC42BPA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDC42BPA 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 FANCL KCNT1 B4GALNT1 CTPS1 ROBO3 EPB41 ALS2