- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- Delta storage pool disease
- Hermansky Pudlak syndrome
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- ClinicalTrials.gov lists trials that are studying or have studied Hermansky-Pudlak syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.