Neuropathy, Hereditary Sensory and Autonomic, Type Iii (HSAN3)

Neuropathy, Hereditary Sensory and Autonomic, Type Iii, also known as familial dysautonomia, is related to insensitivity to pain, congenital, with anhidrosis and autonomic nervous system disease, and has symptoms including constipation and diarrhea. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iii is ELP1 (Elongator Acetyltransferase Complex Subunit 1), and among its related pathways/superpathways are Chromatin organization and Signaling by Receptor Tyrosine Kinases. The drugs Dopamine and Carbidopa have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are hyperhidrosis and feeding difficulties in infancy