IFT140-related recessive ciliopathy

IFT140-related recessive ciliopathy is a rare genetic condition caused by changes in both copies of the IFT140 gene. This gene plays an important role in the normal function of cilia, which are tiny, hair-like structures on cells that help with various functions in the body. People with this condition may be described by other names such as retinitis pigmentosa 80 or short-rib thoracic dysplasia 9 with or without polydactyly. Although the way it affects people can vary, the key factor is that the underlying changes in the IFT140 gene lead to problems with how cilia function in cells.

Information about symptoms is currently limited for this condition.

This condition is caused by biallelic variants in the IFT140 gene. In other words, changes in both copies of this gene lead to problems with cilia function, which is a key factor in the development of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.