FAM47E-STBD1
fam47e-stbd1
Description
fam47e-stbd1 is a rare genetic disorder caused by mutations in the FAM47E gene. The FAM47E gene encodes a protein that plays a crucial role in mitochondrial function and cell metabolism. Mutations in this gene disrupt mitochondrial function, leading to a variety of health problems.
Associated Diseases
fam47e-stbd1 is associated with several diseases and conditions, including:
- Mitochondrial myopathy: A progressive muscle weakness characterized by fatigue, muscle pain, and difficulty with movement.
- Leigh syndrome: A severe neurodegenerative disorder that usually leads to death in early childhood.
- Hypertrophic cardiomyopathy: A condition in which the heart muscle becomes thickened, leading to heart failure.
- Exercise intolerance: An inability to engage in physical activity without experiencing fatigue and shortness of breath.
- Growth retardation: A failure to grow at a normal rate.
- Neurological problems: Such as seizures, intellectual disability, and developmental delays.
Did you Know ?
- The estimated prevalence of fam47e-stbd1 is 1 in 50,000 to 1 in 100,000 individuals worldwide.
