Cerebrotendinous Xanthomatosis (CYP27A1)
Cerebrotendinous xanthomatosis is an autosomal recessive disorder caused by pathogenic variants in the gene CYP27A1, and has the highest prevalence in Sephardic Jewish individuals from Morocco. People with this condition will often develop chronic diarrhea in infancy and cataracts within the first decade of life. Other common symptoms include xanthomas (cholesterol deposits, usually on tendons), spasticity, and cerebellar signs in the 20s and 30s, with noticeable neuropsychiatric issues often developing before age 30. With appropriate medical management lifespan is typically not shortened, but there can be a wide range of presentation. There have been no reported genotype-phenotype correlations.
For information about carrier frequency and residual risk, please see the residual risk table.