PIGP gene related symptoms and diseases
All the information presented here about the PIGP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PIGP gene
Symptoms // Phenotype | % Cases |
---|---|
Encephalopathy | Very Common - Between 80% and 100% cases |
Epileptic encephalopathy | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Focal-onset seizure | Uncommon - Between 30% and 50% cases |
Generalized myoclonic seizures | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PIGP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Multifocal epileptiform discharges
- Central hypotonia
- Limb hypertonia
- Poor head control
- Clonus
- Cerebral visual impairment
- Hypsarrhythmia
- Intellectual disability, profound
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PIGP gene
Here you will find a list of rare diseases related to the PIGP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55
Alternate names
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55 Is also known as glycosylphosphatidylinositol biosynthesis defect 14, gpibd14
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55
SOURCES: OMIM
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
Alternate names
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts, ohtahara syndrome, eiee
Description
Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
- Seizures
- Encephalopathy
- Generalized myoclonic seizures
- Focal-onset seizure
- Epileptic encephalopathy
More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
SOURCES: ORPHANET
Search interest in PIGP
Potential gene panels for PIGP gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
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 panelPIGP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PIGP 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 BPGM SLC6A20 DBH HBG2 ZNF148 POLR3A STIM1