The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Hermansky-Pudlak Syndrome

Prevalence: 1/500000
dermatologic
Official·OMIM:203300Official·ORPHA79430

Albinism, bleeding disorder, and pulmonary fibrosis due to HPS1 and other gene mutations.

Associated Genes

No gene records found associated with this disease.