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.

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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


Potential gene panels for PIGP 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

PIGP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIGP gene.

More info about this panel


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