Hermansky–Pudlak syndrome

Also known as: HPS

Oculocutaneous albinism with platelet storage pool deficiency.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

Etiology & mechanism

Lysosome-related organelle biogenesis defect.

Gene(s) involved (11)

AP3B1AP3D1BLOC1S3BLOC1S5BLOC1S6DTNBP1HPS1HPS3HPS4HPS5HPS6

Symptoms & signs (6)

albinismbleedinggranulomatous colitisnystagmuspulmonary fibrosisvisual impairment

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.