/congenital insensitivity to pain syndrome, Marsili type

congenital insensitivity to pain syndrome, Marsili type

Rare Disease

MONDO:0958106

Also Known As

MARSILI syndromeMARSISMarsili syndromecongenital analgesia, autosomal dominantindifference to pain, congenital, autosomal dominantinsensitivity to pain, congenital, autosomal dominant

Definition

A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.