Hermansky-Pudlak Syndrome 3

Hermansky-Pudlak Syndrome 3 [HPS3]: A mild form of oculocutaneous albinism (fair skin, light-colored hair and eyes, and poor vision). Mutations in the HPS3 gene disrupt the normal function of lysosome-related organelles in melanocytes, impairing proper production and distribution of melanin. Affected individuals are also at increased risk for improper clot formation and bleeding problems.

Ashkenazi Jewish Carrier Frequency: 1 in 235