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.

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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

SOURCES: OMIM ORPHANET

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


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


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