Hermanski-Pudlak Syndrome

"Hermanski-Pudlak Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Descriptor ID	D022861
MeSH Number(s)	C11.270.040.545.400 C15.378.100.100.515 C15.378.100.685.400 C15.378.140.735.400 C15.378.463.735.400 C16.320.099.515 C16.320.290.040.100.400 C16.320.565.100.102.100.400 C16.320.850.080.100.400 C17.800.621.440.102.100.400 C17.800.827.080.100.400 C18.452.648.100.102.100.400
Concept/Terms	Hermanski-Pudlak Syndrome Hermanski-Pudlak Syndrome Hermanski Pudlak Syndrome Hermansky-Pudlak Syndrome Hermansky Pudlak Syndrome

Below are MeSH descriptors whose meaning is more general than "Hermanski-Pudlak Syndrome".

Diseases [C]
Eye Diseases [C11]
Eye Diseases, Hereditary [C11.270]
Albinism [C11.270.040]
Albinism, Oculocutaneous [C11.270.040.545]
Hermanski-Pudlak Syndrome [C11.270.040.545.400]
Hemic and Lymphatic Diseases [C15]
Hematologic Diseases [C15.378]
Blood Coagulation Disorders [C15.378.100]
Blood Coagulation Disorders, Inherited [C15.378.100.100]
Hermanski-Pudlak Syndrome [C15.378.100.100.515]
Platelet Storage Pool Deficiency [C15.378.100.685]
Hermanski-Pudlak Syndrome [C15.378.100.685.400]
Blood Platelet Disorders [C15.378.140]
Platelet Storage Pool Deficiency [C15.378.140.735]
Hermanski-Pudlak Syndrome [C15.378.140.735.400]
Hemorrhagic Disorders [C15.378.463]
Platelet Storage Pool Deficiency [C15.378.463.735]
Hermanski-Pudlak Syndrome [C15.378.463.735.400]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Blood Coagulation Disorders, Inherited [C16.320.099]
Hermanski-Pudlak Syndrome [C16.320.099.515]
Eye Diseases, Hereditary [C16.320.290]
Albinism [C16.320.290.040]
Albinism, Oculocutaneous [C16.320.290.040.100]
Hermanski-Pudlak Syndrome [C16.320.290.040.100.400]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Albinism [C16.320.565.100.102]
Albinism, Oculocutaneous [C16.320.565.100.102.100]
Hermanski-Pudlak Syndrome [C16.320.565.100.102.100.400]
Skin Diseases, Genetic [C16.320.850]
Albinism [C16.320.850.080]
Albinism, Oculocutaneous [C16.320.850.080.100]
Hermanski-Pudlak Syndrome [C16.320.850.080.100.400]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Pigmentation Disorders [C17.800.621]
Hypopigmentation [C17.800.621.440]
Albinism [C17.800.621.440.102]
Albinism, Oculocutaneous [C17.800.621.440.102.100]
Hermanski-Pudlak Syndrome [C17.800.621.440.102.100.400]
Skin Diseases, Genetic [C17.800.827]
Albinism [C17.800.827.080]
Albinism, Oculocutaneous [C17.800.827.080.100]
Hermanski-Pudlak Syndrome [C17.800.827.080.100.400]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Albinism [C18.452.648.100.102]
Albinism, Oculocutaneous [C18.452.648.100.102.100]
Hermanski-Pudlak Syndrome [C18.452.648.100.102.100.400]

Below are MeSH descriptors whose meaning is more specific than "Hermanski-Pudlak Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Hermanski-Pudlak Syndrome" by people in this website by year, and whether "Hermanski-Pudlak Syndrome" was a major or minor topic of these publications.

Bar chart showing 11 publications over 10 distinct years, with a maximum of 2 publications in 2012

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2005	1	1
2006	1	1
2010	1	1
2012	2	2
2014	1	1
2016	1	1
2019	1	1
2020	1	1
2022	1	1
2024	1	1

Below are the most recent publications written about "Hermanski-Pudlak Syndrome" by people in Profiles.

Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.

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Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, Issa F, Torres EA, Powrie F, Gochuico BR, Gahl WA, Cohen L, Uhlig HH. Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism. Mucosal Immunol. 2022 06; 15(6):1431-1446.

View in: PubMed
De Jesus Rojas W, Young LR. Hermansky-Pudlak Syndrome. Semin Respir Crit Care Med. 2020 04; 41(2):238-246.

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Rivera-Concepci?n J, Acevedo-Canabal J, Bur?s A, Vargas G, Cadilla C, Izquierdo NJ. Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. Eur J Haematol. 2019 May; 102(5):432-436.

View in: PubMed
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc. 2016 10; 13(10):1839-1846.

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Jard?n J, Izquierdo NJ, Renta JY, Garc?a-Rodr?guez O, Cadilla CL. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Ophthalmic Genet. 2016; 37(1):89-94.

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Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). Biochim Biophys Acta. 2013 Mar; 1833(3):468-78.

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Liu L, Sutton J, Woodruff E, Villalta F, Spearman P, Dong X. Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2. J Virol. 2012 Oct; 86(20):11242-53.

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Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol. 2010 Aug; 32(6):448-53.

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Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.

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