ORPHA:231512

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Also called HPS without pulmonary fibrosis, Hermansky-Pudlak syndrome without pulmonary fibrosis

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:231512 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.