Have questions? Visit https://www.reddit.com/r/SNPedia

Hermansky-Pudlak syndrome

From SNPedia

Hermansky–Pudlak syndrome (HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (lack of pigment in the eyes), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).Wikipedia

HPS is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.Wikipedia

There are currently nine designated types of Hermansky-Pudlak syndrome, as defined by mutation in the following genes: