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


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


P., 20th century Czech physician.
Hermansky-Pudlak syndrome - see under Hermansky
References in periodicals archive ?
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
Successful thyroidectomy in a patient with Hermansky-Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates.
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.
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
72) Dense granule SPDs ([delta]-SPDs) can be seen as a singular clinical entity or as part of other hereditary disorders, such as Chediak-Higashi, Hermansky-Pudlak syndrome, thrombocytopenia-absent radius syndrome, or Wiskott-Aldrich syndrome.
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.
However, the defect has also been observed in patients with other congenital abnormalities, including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Wiskott-Aldrich syndrome, and the syndrome of thrombocytopenia with absent radius.