PPP3CB gene related symptoms and diseases
All the information presented here about the PPP3CB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPP3CB gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Leukoencephalopathy | Very Common - Between 80% and 100% cases |
Pathologic fracture | Very Common - Between 80% and 100% cases |
Global brain atrophy | Very Common - Between 80% and 100% cases |
Oral-pharyngeal dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PPP3CB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Personality changes
- Abnormality of mitochondrial metabolism
- Hypercalciuria
- Back pain
- Abnormality of the hand
- Schizophrenia
- Drooling
- Leukopenia
And 94 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPP3CB gene
Here you will find a list of rare diseases related to the PPP3CB. 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
Search interest in PPP3CB
Potential gene panels for PPP3CB gene
PPP3CB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPP3CB 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 FAM69A ACD SCN11A NTNG1 IL1RAPL1 CSTB ACSF3