Riley-Day syndrome

MONDO:0009131

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

Also known as: Dysautonomia, Familial, HSAN 3, HSAN III, HSAN3, HSN 3, Riley Day syndrome, Riley-Day syndrome, familial dysautonomia

3 clinical trials for this condition and its sub-types, 3 tagged with Riley-Day syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neurological disease (5791) ↑ Neurocristopathy (1555)

Including sub-types (3) Tagged with Riley-Day syndrome (3)

Trials to join now! 1 Not yet finished but already full! 2

New study aims to unlock secrets of rare nerve disease

Knowledge-focused Recruiting now

This study follows people with familial dysautonomia (FD) to learn how the disease changes over time. Researchers will collect routine medical test results and optional blood samples to find biological markers that could help diagnose and treat FD better. The study is observation…

Sponsor: NYU Langone Health • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:56 UTC

Riley-Day syndrome

Where it sits in the disease tree

New study aims to unlock secrets of rare nerve disease