ORPHA:231500

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Also called HPS with pulmonary fibrosis, Hermansky-Pudlak syndrome with 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:231500 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.