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familial dysautonomia; Riley-Day syndrome; hereditary sensory & autonomic neuropathy III
Epidemiology:
- primarily confined to individuals of Ashkenazi Jewish descent
- incidence of 1/3600 live births (Ashkenazi Jews)
Pathology:
- progressive degeneration of the sensory, sympathetic & parasympathetic neurons
- congenital sensory neuropathy
- variable autonomic dysfunction
Genetics:
- autosomal recessive
- associated with defects in IKBKAP (IKAP)
Clinical manifestations:
- poor development & survival
- decreased sensitivity to pain & temperature
- cardiovascular instability
- recurrent pneumonia
- vomiting crises
- gastrointestinal dysfunction
Laboratory:
- IKBKAP genotyping (blood) [2]
- see ARUP consult [2]
General
genetic disease of the central nervous system
Database Correlations
OMIM correlations
MORBIDMAP 603722
References
- OMIM :accession 223900
- ARUP Consult: Jewish Genetic Disease
The Physician's Guide to Laboratory Test Selection & Interpretation
- Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm
https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
- Ashkenazi Jewish Genetic Diseases Panel
https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel
- Familial dysautonomia;
Hereditary sensory and autonomic neuropathy - type III (HSAN III)
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002363/
- Familial Dysautonomia (FD)
http://www.familialdysautonomia.org/