1. Mendelian
  2. Rare Disease Genes
  3. NAXE

NAXE gene related symptoms and diseases

All the information presented here about the NAXE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to NAXE gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Brain atrophy Very Common - Between 80% and 100% cases
Encephalomalacia Very Common - Between 80% and 100% cases
Infantile encephalopathy Very Common - Between 80% and 100% cases
Skin erosion Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NAXE gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Vegetative state
  • Myelopathy
  • Cerebral edema
  • Increased CSF lactate
  • Progressive encephalopathy
  • Leukoencephalopathy
  • Progressive neurologic deterioration
  • Tetraparesis

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NAXE gene

Here you will find a list of rare diseases related to the NAXE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Description

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Most common symptoms of ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

SOURCES: OMIM


Potential gene panels for NAXE gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

APOA1BP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NAXE gene.

More info about this panel
United States.

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