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.
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.
NEUROMYELITIS OPTICA
Alternate names
NEUROMYELITIS OPTICA Is also known as devic disease
Description
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
More info about NEUROMYELITIS OPTICA
Search interest in AQP4
Potential gene panels for AQP4 gene
AQP4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AQP4 gene.
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 ITIH4 SPECC1L XPR1 DCTN1 C8B SGSH AMT