PNPLA8 gene related symptoms and diseases

All the information presented here about the PNPLA8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PNPLA8 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases
Vaginal fistula Very Common - Between 80% and 100% cases
Increased serum pyruvate Very Common - Between 80% and 100% cases
Hyperalaninemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PNPLA8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Episodic vomiting
  • Progressive proximal muscle weakness
  • Mitochondrial myopathy
  • Toe walking
  • Gowers sign
  • Focal impaired awareness seizure
  • Ragged-red muscle fibers
  • EMG abnormality

And 18 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PNPLA8 gene

Here you will find a list of rare diseases related to the PNPLA8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME


Alternate names

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Description

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

Most common symptoms of MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for PNPLA8 gene

PNPLA8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PNPLA8 gene.

More info about this panel

MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PNPLA8 gene.

More info about this panel


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