Hermansky-Pudlak syndrome


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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

[hərmän′skē poo͡d′läk]
Etymology: F. Hermansky, Czechoslovakian internist, 20th century; P. Pudlak, Czechoslovakian internist, 20th century
an autosomal-recessive form of oculocutaneous albinism, with a hemorrhagic diathesis secondary to a platelet defect and accumulation of a ceroid-like substance in the reticuloendothelial system, oral mucosa, and urine.

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
References in periodicals archive ?
The only definitive treatment for pulmonary fibrosis related to Hermansky-Pudlak syndrome is lung transplantation, few cases of which have been successfully performed (5, 6).
Chest radiographs may be normal in patients with Hermansky-Pudlak syndrome at the time of presentation.
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
3] deficiency hereditary afibrinogenemia Storage pool disorders: dense granule deficiencies Hermansky-Pudlak syndrome Wiskott-Aldrich syndrome thrombocytopenia with absent radii syndrome Chediak-Higashi syndrome DISORDERS OF PLATELET SECRETION (RELEASE) Hereditary thromboxane pathway disorders: aspirin-like defects cyclooxygenase deficiency thromboxane synthase deficiency Drug inhibition of the prostaglandin pathways drug inhibition of platelet phosphodiesterase activity uremia
As previously disclosed, InterMune also plans to conduct a Phase III pirfenidone development program for Hermansky-Pudlak Syndrome (HPS), a rare genetic disorder often complicated by pulmonary fibrosis.
org 1,2,3,4,6,8 CHEDIAK HIGASHI SYNDROME See: Hermansky-Pudlak Syndrome CHEMKE SYNDROME See: Hydrocephalus; Lissencephaly CHIARI MALFORMATION See: Arnold-Chiari Malformation CHILD SYNDROME See: Ichthyosis CHOLESTATIS WITH PERIPHERAL PULMONARY STENOSIS See: Alagille Syndrome CHOLESTERYL ESTER STORAGE DISEASE See: Tay-Sachs Disease CHONDRODYSPLASIA PUNCTATA See: Growth Disorders; Ichthyosis CHORIONIC VILLUS SAMPLING, RELATED DISABILITIES See also: Limb Disorders CVS Parent Network Support Group 15706 Reynolds Ln.