PON1 gene related symptoms and diseases
All the information presented here about the PON1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PON1 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 PON1 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 PON1 gene
Here you will find a list of rare diseases related to the PON1. 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
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