Familial Dysautonomia (IKBKAP)

Familial dysautonomia is an autosomal recessive disorder caused by pathogenic variants in the gene IKBKAP. The vast majority of patients with familial dysautonomia are of Ashkenazi Jewish descent. This disease affects the development and survival of neurons. Onset is during infancy, where symptoms include hypotonia and developmental delay. Other clinical features include frequent vomiting and other gastrointestinal problems, impaired sensitivity to pain and temperature, and recurrent pneumonia. As children age, they are ataxic and have difficulty walking. Intellect is unaffected. Symptoms progress in severity over time. Death often occurs suddenly in childhood due to problems with the lungs or from other unknown causes; infections are also a frequent cause of death. With current treatments, approximately 60% of patients reach age 20.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARCaucasian1 in 20015%0.00425531914893617
Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARAshkenazi Jewish1 in 6935%0.00943396226415094
Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARWorldwide< 1 in 50012%0.00176056338028169
Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARFrench Canadian1 in 26712%0.0033003300330033
Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARFinnish1 in 14375%0.00175746924428822
Familial Hypercholesterolemia LDLR1-17 [18] (*21)ARSouth African Afrikaner 1 in 7094%0.000868809730668983