A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. [ NCI ]
Synonyms: Riley- Day Riley-Day Syndrome Familial dysautonomia hereditary sensory and autonomic neuropathy type III HSAN 3 Neuropathy, Hereditary Sensory and Autonomic, Type III Hereditary Sensory and Autonomic Neuropathy Type III Familial Dysautonomia HSAN III
Term information
NCIT_C165258, NCIT_C167409
A dysautonomia due to a genetic disorder associated with an abnormality of the sensory and autonomic nerves, decreased sensation of pain and decreased production of tears.