Riley-Day syndrome
Findings
No curated finding names Riley-Day syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009131), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pupil morphologyHPOHP:0000615
- Very frequent (80% to 99% of cases)
- AlacrimaHPOHP:0000522
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Hypohidrosis
Show the remaining 26
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Corneal erosionHPOHP:0200020
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELP1HGNC:5959
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
13 names
Resolves to: Riley-Day syndrome
- Also called
- Dysautonomia, Familialfamilial dysautonomiahereditary sensory and autonomic neuropathy 3hereditary sensory and autonomic neuropathy type 3hereditary sensory and autonomic neuropathy type IIIhereditary sensory neuropathy type 3HSAN 3HSAN IIIHSAN3HSN 3neuropathy, hereditary sensory and autonomic, type 3neuropathy, hereditary sensory and autonomic, type IIIRiley Day syndrome