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Familial dysautonomia , also called hereditary sensory and autonomic neuropathy type III, is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is caused by mutations in the IKBKAP gene. It is inherited in an autosomal recessive pattern.
Source: GARD Last updated on 07-06-20
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