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Riley-Day syndrome

Disease Summary
Associated Targets (24)
Tbio

12

Tclin

6

Tchem

6


GARD Rare
Mondo Description A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
Uniprot Description A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.
Mondo Term and Equivalent IDs
MONDO:0009131:  Riley-Day syndrome
COHD:4104196: 
GARD:0007581: 
MESH:D004402: 
NCIT:C84706: 
Orphanet:1764: 
SCTID:29159009: 
UMLS:C0013364: