Disease-gene associations mined from literature

Human genes for Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome [DOID:3753]

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

Synonyms:  Hermansky-Pudlak syndrome,  DOID:3753,  HermanskyPudlak syndrome,  Hermansky-Pudlak disease,  Hermansky-Pudlak disorder ...