Hermansky–Pudlak Syndrome- AR, HPS gene mutation (lysosomal transport protein) or AP3B1 (formation of vesicles and protein trafficking)
- Oculocutaneous albinism, hemorrhagic diathesis (absent dense bodies in platelets) with epistaxis, ecchymosis, menorrhagia, pulmonary fibrosis, granulomatous colitis, renal failure, cardiomyopathy
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