Families

Clinical features
Variants in POC5 cause a multisystem disorder characterized by retinitis pigmentosa, diabetes mellitus with insulin resistance, lipodystrophy with liver problems, kidney disease, and muscle complaints.

Prevalence
Eleven families with this disorder have been described in the medical literature.

Inheritance
Variants in this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a variant involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the variants from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.