Hermansky-Pudlak syndrome - MedlinePlus
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair.
Hermansky-Pudlak syndrome | About the Disease | GARD
Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, …
Hermansky–Pudlak syndrome - Wikipedia
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 ...
Hermansky Pudlak Syndrome - Symptoms, Causes, Treatment
2023年6月14日 · Hermansky-Pudlak syndrome (HPS) is a rare, hereditary disorder that consists of decreased pigmentation (albinism) with visual impairment, and blood platelet dysfunction with prolonged bleeding.
What is HPS? | Hermansky-Pudlak Syndrome Network
Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder, characterized by albinism, visual impairment, and a platelet dysfunction that results in prolonged bleeding. Some people with HPS may develop other complications depending on the HPS gene involved; these include, inflammatory bowel disease, pulmonary fibrosis, and kidney disease.
Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf
2000年7月24日 · Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency.
Hermansky-Pudlak syndrome - UpToDate
2023年11月16日 · Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis, and other organ involvement specific to certain types [1-3]. Eleven types of HPS associated with mutations in 11 different genes have been recognized (table 1).
Characteristics | Hermansky-Pudlak Syndrome Network
Hermansky-Pudlak Syndrome involves a bleeding disorder caused by a platelet defect. Platelets are involved in one of the mechanisms that exist within the body to counteract bleeding. Platelets are made in the bone marrow and circulate in the bloodstream in large quantities.
Hermansky-Pudlak Syndrome (HPS) is a rare inherited disease, named after two doctors in Czechoslovakia who, in 1959, recognized similar health conditions in two unrelated adults. Since the discovery of HPS, the condition has occurred all over the world but is …
Hermansky-Pudlak syndrome - DermNet
What is Hermansky-Pudlak syndrome? Hermanksy-Pudlak syndrome is an inherited disorder due to an abnormality of lysosome-related organelles. Ten subtypes are described. Hermanksy-Pudlak syndrome is characterised by: Oculocutaneous albinism; Visual impairment; A tendency to bleeding. What are lysosome-related organelles?