CNPY3 gene related symptoms and diseases
All the information presented here about the CNPY3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CNPY3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Brain atrophy | Very Common - Between 80% and 100% cases |
| Epileptic encephalopathy | Very Common - Between 80% and 100% cases |
| Hypsarrhythmia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CNPY3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Intellectual disability, profound
Not very common - Between 30% and 50% cases
- Status epilepticus
- Tetraparesis
- Choreoathetosis
- Progressive microcephaly
- Spastic tetraparesis
- Lissencephaly
- Hyperkinesis
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CNPY3 gene
Here you will find a list of rare diseases related to the CNPY3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WEST SYNDROME
Alternate names
WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome, infantile spasm syndrome, x-linked 1, xmesid, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile spasms, infantile epileptic-dyskinetic encephalopathy, issx1
Description
West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
Most common symptoms of WEST SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about WEST SYNDROME
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60
- Intellectual disability
- Seizures
- Absent speech
- Tetraplegia
- Brain atrophy
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60
SOURCES: OMIM
Search interest in CNPY3
Potential gene panels for CNPY3 gene
CNPY3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNPY3 gene.
More info about this panel United States.
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