Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Synonyms: HPS with pulmonary fibrosis | Hermansky-Pudlak syndrome with pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term) a multi-system disorder characterized by oculocutaneous albinism bleeding diathesis and in some cases pulmonary fibrosis or granulomatous colitis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Hermansky-Pudlak syndrome due to BLOC-3 deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.