OnlineIMD

Hermansky-Pudlak syndrome

  • Type
    Phenotype
  • External link(s)
    • Orphanet
  • Associated genes
    Gene list
    • AP3B1 AP3B1 deficiency
    • AP3D1 AP3D1 deficiency
    • BLOC1S3 Hermansky-Pudlak syndrome type 8
    • BLOC1S5
    • BLOC1S6 Hermansky-Pudlak syndrome type 9
    • DTNBP1 Hermansky-Pudlak syndrome type 7
    • HPS1 Hermansky-Pudlak syndrome type 1
    • HPS3 Hermansky-Pudlak syndrome type 3
    • HPS4 Hermansky-Pudlak syndrome type 4
    • HPS5 Hermansky-Pudlak syndrome type 5
    • HPS6 Hermansky-Pudlak syndrome type 6
  • Disease group(s)
    • 19.4    Disorders of lysosome-related organelle biogenesis
  • Child entries
    • Hermansky-Pudlak syndrome type 1
    • Hermansky-Pudlak syndrome type 3
    • Hermansky-Pudlak syndrome type 4
    • Hermansky-Pudlak syndrome type 5
    • Hermansky-Pudlak syndrome type 6
    • Hermansky-Pudlak syndrome type 7
    • Hermansky-Pudlak syndrome type 8
    • Hermansky-Pudlak syndrome type 9