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 (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 ?
Albinism and Hermansky-Pudlak syndrome in Puerto Rico.
(10.) Nguyen T, Wei ML: Characterization of melanosomes in murine Hermansky-Pudlak syndrome: Mechanisms of hypopigmentation.
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.
Of course, there are many other causes of pulmonary fibrosis to consider, including smoking-related disease, pneumoconiosis, sarcoidosis/berylliosis, immunoglobulin G4-related disease, ErdheimChester disease (Figure 3, D), Hermansky-Pudlak syndrome, and idiopathic pleuroparenchymal fibroelastosis (Table 1).
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
The reported conditions include sarcoidosis, (5) a variety of rheumatic diseases, (6-9) lymphangioleiomyomatosis, (10) the Hermansky-Pudlak syndrome (11) neurofibromatosis, (12) and familial hypercalcemic hypocalciuria.
Columbia, MO 65202-3121 (800) 442-7604 (573) 499-4694 (voice/fax) ??marion@chargesyndrome.org http://www.chargesyndrome.org 1,2,3,6,8 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.
(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.
Columbia, MO 65202-3121 (800) 442-7604 (573) 499-4694 (voice/fax) ??marion@chargesyndrome.org http://www.chargesyndrome.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.[1-3]