PON2 gene related symptoms and diseases
All the information presented here about the PON2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PON2 gene
Symptoms // Phenotype | % Cases |
---|---|
Microcephaly | Very Common - Between 80% and 100% cases |
Xerostomia | Very Common - Between 80% and 100% cases |
Peripheral demyelination | Very Common - Between 80% and 100% cases |
Fasciculations | Very Common - Between 80% and 100% cases |
Sleep apnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PON2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Slurred speech
- Emotional lability
- Amyotrophic lateral sclerosis
- Agitation
- Bulbar palsy
- Muscle fibrillation
- Frontotemporal dementia
- Gliosis
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PON2 gene
Here you will find a list of rare diseases related to the PON2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMYOTROPHIC LATERAL SCLEROSIS
Alternate names
AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS
Search interest in PON2
Potential gene panels for PON2 gene
PON2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PON2 gene.
More info about this panelAmyotrophic Lateral Sclerosis (ALS) Panel Panel
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2
More info about this panelEarly-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel Panel
By Integrated Genetics Westborough Integrated Genetics Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel that also includes the following genes: PCSK9 APOC3 LDLR PON2
More info about this panelPON2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PON2 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 XPR1 EBF3 ZNF430 WIPF1 GNE MPV17 RPL31