Hermansky–Pudlak syndrome

Hermansky–Pudlak syndrome
Hermansky–Pudlak syndrome
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

Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely 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). 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. Many of the clinical research studies on the disease have been conducted in Puerto Rico.

There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.

It is named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.