Hermansky-Pudlak syndrome

Epidemiology: - rare Pathology: - defects in melanosomes, lysosomes & platelet dense granules - accumulation of ceroid lipofuscin in lysosomes of reticuloendothelial cells, bone marrow & lung macrophages, GI mucosal cells - platelet storage pool deficiency - lysosomal storage defects - absence of platelet dense bodies Genetics: 1) autosomal recessive 2) associated with mutations in: - HPS1 gene - HPS3 gene - HPS4 gene - HPS5 gene - DTNBP1 gene (HPS7) - BLOC1S3 gene (HPS8) - gene for the beta-3A adaptin (AP3B1) - PLDN gene (HPS9) Clinical manifestations: - oculocutaneous albinism - reduced visual acuity, legal blindness to low vision - macular translucency - inflammatory bowel disease - bleeding diathesis - epistaxis - gingival bleeding - easy bruisability - cardiomyopathy - interstitial pulmonary fibrosis - renal failure Complications: - ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death

Specific

Hermansky-Pudlak syndrome 1/HPS1 mutation Hermansky-Pudlak syndrome 3/HPS3 mutation Hermansky-Pudlak syndrome 4/HPS4 mutation Hermansky-Pudlak syndrome 5/HPS5 mutation Hermansky-Pudlak syndrome 6/HPS6 mutation Hermansky-Pudlak syndrome 9/HPS9 mutation Hermansky-Pudlak syndrome/beta 3A adaptin mutation (Hermansky-Pudlak syndrome-2)

General

genetic syndrome (multisystem disorder) lysosomal storage disease

References

OMIM 203300