FHL5
FHL5: A Gene Linked to Vascular and Eye Conditions
Description:
FHL5 (Four and a Half LIM Domains 5) is a gene that encodes a protein involved in cell-cell adhesion and signaling. Mutations in FHL5 can lead to several vascular and eye conditions.
Associated Diseases:
- Focal segmental glomerulosclerosis (FSGS): A kidney disease characterized by scarring and proteinuria. Mutations in FHL5 are responsible for approximately 10% of FSGS cases.
- Nephrotic syndrome: A condition marked by excessive protein loss in the urine. FHL5 mutations can also contribute to nephrotic syndrome.
- Posterior polymorphous corneal dystrophy (PPCD): An eye condition that causes the cornea (the clear front part of the eye) to become cloudy and distorted.
- Choroidal neovascularization (CNV): Abnormal blood vessel growth beneath the retina, the light-sensitive layer at the back of the eye.
Did you Know ?
Estimates suggest that FHL5 mutations are present in approximately 0.5-1% of people with FSGS.
