PPP3CA gene related symptoms and diseases
All the information presented here about the PPP3CA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPP3CA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Spasticity | Common - Between 50% and 80% cases |
| Involuntary movements | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PPP3CA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Generalized hypotonia
- Absent speech
- Encephalopathy
- Cerebral atrophy
- Dystonia
- Multifocal seizures
- Epileptic encephalopathy
Rarely - Less than 30% cases
- Arthropathy
And 123 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPP3CA gene
Here you will find a list of rare diseases related to the PPP3CA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WILSON DISEASE
Alternate names
WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd
Description
Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.
Most common symptoms of WILSON DISEASE
- Intellectual disability
- Growth delay
- Neoplasm
- Failure to thrive
- Spasticity
More info about WILSON DISEASE
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
Alternate names
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee
Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1
Description
IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017).
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1
SOURCES: OMIM
Search interest in PPP3CA
Potential gene panels for PPP3CA gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
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