Familial dysautonomia
Definition:
Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.
References:
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[1]. A Blumenfeld, et al. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet. 1999 Apr;64(4):1110-8. [Content Brief]
[2]. S L Anderson, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet. 2001 Mar;68(3):753-8. [Content Brief]
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