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]

Farlex Partner Medical Dictionary © Farlex 2012

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

Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.

Hermansky,

F., Czech physician.

Hermansky-Pudlak syndrome - autosomanl recessive trait characterized by early fibromatosis and related abnormalities.

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Pudlak,

P., 20th century Czech physician.

Hermansky-Pudlak syndrome - see under Hermansky

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