This syndrome with an autosomal recessive inheritance pattern is characterized by the presence of oculocutaneous albinism, bleeding diathesis, and alterations in different organs. It has a prevalence of 1-2:1,000,000 individuals. Ten types of HPS are recognized as secondary to mutations in genes encoding proteins involved in intracellular lysosome biogenesis. HPS types 1, 2, and 4 are associated with the presence of a form of pulmonary fibrosis similar to idiopathic pulmonary fibrosis. For other HPS types, a lower frequency and severity of pulmonary involvement has been described.

Hermansky-Pudlak syndrome panel [21 genes]
AP3B1 AP3D1 BLOC1S3 BLOC1S6 DKC1
DTNBP1 GPR143 HPS1 HPS3 HPS4
HPS5 HPS6 LYST OCA2 SFTPB
SFTPC TERC TERT TINF2 TYR
TYRP1