LSDDB

Hermansky Pudlak 2 syndrome (HPS-2)

This is a hereditary multi system disorder. There are about 10 different types of the disease due to different mutations. However they all are involved in intracellular trafficking of organelles such as dense granules of platelets and melanosomes (Hengst et al., 2018). HPS-2 is caused due the mutations of AP3B1 gene located at 5q14.1. This gene encodes β3A which is a subunit of the AP3 complex. This AP3 complex plays an important role in the formation of membrane and trafficking of intracellular vesicles (Yokoyama and Gochuico, 2021). Therefore mutations in the gene cause trafficking issues which in turn results in occulocutaneous albinism, a form of platelet storage disorder resulting in bleeding diathesis (Hengst et al., 2018).

Reference :
Hengst, M. et al. (2018) ‘Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood’, Orphanet Journal of Rare Diseases, 13(1), p. 42. doi:10.1186/s13023-018-0780-z.
Yokoyama, T. and Gochuico, B.R. (2021) ‘Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease’, European Respiratory Review, 30(159). doi:10.1183/16000617.0193-2020.