Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder caused by pathogenic variants in the gene NTRK1. While it has been observed in different ethnicities, the incidence appears to be higher in the Japanese population and in Sephardic Jews from Morocco. Clinical features include intellectual disability as well as the inability to feel pain. Together, these features lead to self-mutilation and auto-amputation, infections, fractures and joint dislocations that may not heal properly. Patients also have an inability to sweat, which may lead to recurrent episodes of unexplained fever that may be fatal. With proper treatment, life expectancy may be normal. No genotype-phenotype correlation has been observed.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.