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  1. Mendelian
  2. Rare Disease Genes
  3. PPARGC1A

PPARGC1A gene related symptoms and diseases

All the information presented here about the PPARGC1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PPARGC1A gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Xerostomia Very Common - Between 80% and 100% cases
Peripheral demyelination Very Common - Between 80% and 100% cases
Fasciculations Very Common - Between 80% and 100% cases
Sleep apnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PPARGC1A gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Slurred speech
  • Emotional lability
  • Amyotrophic lateral sclerosis
  • Agitation
  • Bulbar palsy
  • Muscle fibrillation
  • Frontotemporal dementia
  • Gliosis

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PPARGC1A gene

Here you will find a list of rare diseases related to the PPARGC1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AMYOTROPHIC LATERAL SCLEROSIS

Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

Potential gene panels for PPARGC1A gene

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

PPARGC1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPARGC1A gene.

More info about this panel
United States.

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