Hermansky–Pudlak syndrome
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Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive[1] 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). It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800.[2] Many of the clinical research studies on the disease have been conducted in Puerto Rico.
Hermansky–Pudlak syndrome | |
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Other names | Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, Delta storage pool disease |
Hermansky–Pudlak syndrome is inherited via autosomal recessive manner | |
Specialty | Endocrinology |
There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.[3]
It is named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).[4][5][6]