Genetic mutations in PROKR1 are associated with Hirschsprung's disease [1688], while genetic mutations in PROKR2 are associated with hypogonadotropic hypogonadism with anosmia [455], hypopituitarism with pituitary stalk interruption [1649] and Hirschsprung's disease [1688]. This evidence concerns the gene PROKR1 and Hirschsprung disease.