EPHA4 gene related symptoms and diseases
All the information presented here about the EPHA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EPHA4 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 EPHA4 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 EPHA4 gene
Here you will find a list of rare diseases related to the EPHA4. 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 EPHA4
Potential gene panels for EPHA4 gene
EPHA4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPHA4 gene.
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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 MTHFR DCN POMGNT2 PGAP1 PGM3 TBCK CNTN1