Riley-Day Syndrome

From WikiGenetics

Contents 1 Name of Condition 2 Definition 3 Description, Signs and Symptoms 4 Inheritance 5 Demographics 6 Diagnosis 7 Treatment and Management 8 Prognosis 9 Resources 10 References

[edit] Name of Condition

[edit] Definition

[edit] Description, Signs and Symptoms

[edit] Inheritance

Riley Day syndrome is inherited in an autosomal recessive pattern. It is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein (IkB kinase complex associated protein).

[edit] Demographics

Riley-Day is largely confined to individuals of Ashkenazi (Eastern European) heritage. The carrier frequency in Jewish individuals of Eastern European ancestry is about 1/30, the carrier frequency in non-Jewish individuals is about 1/3000.

[edit] Diagnosis

[edit] Treatment and Management

[edit] Prognosis

[edit] Resources

[edit] References