AQP4 gene related symptoms and diseases

All the information presented here about the AQP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AQP4 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Hyperkinesis Very Common - Between 80% and 100% cases
Recurrent singultus Very Common - Between 80% and 100% cases
Functional abnormality of the bladder Very Common - Between 80% and 100% cases
CSF pleocytosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AQP4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Optic neuritis
  • Abnormality of brain morphology
  • Neuritis
  • Ocular pain
  • Autoimmune antibody positivity
  • Neuronal loss in central nervous system
  • Respiratory insufficiency
  • Peripheral demyelination

And 9 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to AQP4 gene

Here you will find a list of rare diseases related to the AQP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

NEUROMYELITIS OPTICA Is also known as devic disease


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

Most common symptoms of NEUROMYELITIS OPTICA

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure



Potential gene panels for AQP4 gene

AQP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AQP4 gene.

More info about this panel

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