Familial dysautonomia
From SNPedia
Familial dysautonomia, sometimes called Riley–Day syndrome or hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). It is caused by mutations in the IKBKAP gene.Wikipedia
This disease is more common in Ashkenazi Jews, with an incidence of about 1 in 3,600 births. It is caused by mutations in the IKBKAP gene. OMIM
- rs111033171; by far, the most common mutation, accounting for ~99% of cases; carrier frequency 1 in 30 among Ashkenazi Jews
- rs137853022
- rs28939712
