Disease or Syndrome
Hermanski-Pudlak syndrome
Subclass of:
Blood Coagulation Disorders, Inherited;
Platelet Storage Pool Deficiency;
Albinism, Oculocutaneous
Definitions related to hermanski-pudlak syndrome:
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(hermansky-pudlak syndrome) A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.NCI ThesaurusU.S. National Cancer Institute, 2021
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(hermansky-pudlak syndrome) A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.GeneReviewsUniversity of Washington, 2021
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Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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In 1959, Hermansky and Pudlak described two patients with oculocutaneous albinism (OCA) who had bleeding diathesis. Both patients had pulmonary disease.WebMD, 2019
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Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis), and colitis. Symptoms of pulmonary fibrosis may get worse over time,...National Center for Advancing Translational Sciences
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