Hermansky-Pudlak syndrome (HPS) is caused by homozygous or compound heterozygous mutations in 1 of 11 genes that encode components in one of four HPS protein-associated complexes: adapter protein 3 (AP-3) and biogenesis of lysosome-related organelles complex 1, 2, and 3 (BLOC-1, BLOC-2, and BLOC-3).

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 (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, …

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 (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.

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.

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 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 (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding diathesis, and additional multisystemic manifestations including pulmonary fibrosis.

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disease characterized by extensive clinical and genetic polymorphism. Due to the wide variability of symptoms, diagnosing HPS presents a challenge for physicians across specialties.