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.

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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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for EPHA4 gene

EPHA4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPHA4 gene.

More info about this panel

Tempus xO assay Panel

United States.

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 panel


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