Hermansky-Pudlak syndrome


Her·man·sky-Pud·lak syn·drome

(hār-mon'skē pūd'lok), [MIM*203300] a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.
See also: oculocutaneous albinism. [F. Hermansky, P. Pudlak]

Hermansky-Pudlak Syndrome (HPS)

A rare type of albinism characterized by a problem with blood clotting and a buildup of waxy material in lungs and intestines.Mentioned in: Albinism

Hermansky,

F., Czech physician. Hermansky-Pudlak syndrome - autosomanl recessive trait characterized by early fibromatosis and related abnormalities.

Pudlak,

P., 20th century Czech physician. Hermansky-Pudlak syndrome - see under Hermansky