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

单词	hermansky-pudlak syndrome
释义	Hermansky-Pudlak syndrome Her·man·sky-Pud·lak syn·drome (hār-mon'skē pūd'lok), [MIM203300] 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 AcronymsSeeHPS
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