CEP164-related ciliopathy

CEP164-related ciliopathy is a rare condition caused by changes in the CEP164 gene. It is a type of ciliopathy, which means it involves problems with cilia, small hair-like structures in the body that are important for many functions. This disease shows a wide range of effects in the body. Some individuals might experience problems in the kidneys, lungs, eyes, brain, and may have extra digits (polydactyly), bronchiectasis, or obesity. The impact on development and various organs can vary widely from person to person.

People with this condition may experience a combination of symptoms including kidney problems such as nephronophthisis, eye issues like retinal degeneration, and respiratory problems including bronchiectasis. In addition, there may be developmental delays, central nervous system malformations, polydactyly, and obesity. The range and severity of symptoms can vary between individuals.

CEP164-related ciliopathy is caused by variants in the CEP164 gene. Genetic changes in this gene affect the normal functioning of cilia, which can lead to a wide range of symptoms affecting different organs and systems in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.