HPS Network Inc. 作成者: Firefox ユーザー 12175464

ermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). HPS also causes Pulmonar Fibrosis It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans.