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.
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
Search interest in PNPLA8
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 United States.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRPH HLA-DQA1 PLCZ1 LRPPRC SIX3 MPC1 CCDC88C