Fanconi Anemia, Group C (FANCC)
Fanconi anemia, group C is an autosomal recessive disease caused by pathogenic variants in the gene FANCC. While it has been detected in multiple ethnicities, it is most prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. Clinical features include bone marrow failure and anemia due to a lack of neutrophils, platelets, and red and white blood cells. Some patients also have developmental problems of the kidneys, including missing or malformed kidneys, and/or skeletal abnormalities of the thumbs and radius. Patients also have an increased incidence of cancer. Due to bone marrow failure and the increased risk of malignancy, the life expectancy for a patient with Fanconi anemia is 29 years old, although some patients survive longer. Some specific variants have been associated with milder or more severe disease, and therefore the disease severity may be predicted in some patients.
For information about carrier frequency and residual risk, please see the residual risk table.