/Riley-Day syndrome

Riley-Day syndrome

Rare Disease

MONDO:0009131

Also Known As

Dysautonomia, FamilialHSAN 3HSAN IIIHSAN3HSN 3Riley Day syndromeRiley-Day syndromefamilial dysautonomiahereditary sensory and autonomic neuropathy 3hereditary sensory and autonomic neuropathy type 3hereditary sensory and autonomic neuropathy type IIIhereditary sensory neuropathy type 3neuropathy, hereditary sensory and autonomic, type 3neuropathy, hereditary sensory and autonomic, type IIIdysautonomia, familialfamilial autonomic nervous dysfunction

Definition

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.