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.

For detailed information about this disease visit : National Institutes of Health (NIH) >

Carrier Frequency by Ethnicity >