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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.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Human disease (14) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of development or morphogenesis (0)
Trials to join now! 1 Not yet finished but already full! 2
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  • 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

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