Hermansky-Pudlak Syndrome, Type 3 (HPS3)

Hermansky-Pudlak syndrome, type 3 is an autosomal recessive disorder that is caused by pathogenic variants in the gene HPS3. It is a rare disease worldwide, but is more prevalent in individuals of Ashkenazi Jewish or Puerto Rican descent due to the presence of a founder mutation. The disease is characterized by the presence of lighter-colored skin and hair than unaffected family members, as well as reduced vision. Patients also have a susceptibility to prolonged bleeding caused by abnormalities in the platelets, which normally function in the clotting process. A subset of patients may develop Crohns disease. Life expectancy is not thought to be reduced. It is not currently possible to predict the severity of symptoms based on the variants inherited.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):