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Xu, C. Hermansky-Pudlak Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4072 (accessed on 29 September 2026).
Xu C. Hermansky-Pudlak Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4072. Accessed September 29, 2026.
Xu, Camila. "Hermansky-Pudlak Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4072 (accessed September 29, 2026).
Xu, C. (2020, December 23). Hermansky-Pudlak Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4072
Xu, Camila. "Hermansky-Pudlak Syndrome." Encyclopedia. Web. 23 December, 2020.
Hermansky-Pudlak Syndrome
Edit

Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.

genetic conditions

References

  1. Bultema JJ, Ambrosio AL, Burek CL, Di Pietro SM. BLOC-2, AP-3, and AP-1proteins function in concert with Rab38 and Rab32 proteins to mediate proteintrafficking to lysosome-related organelles. J Biol Chem. 2012 Jun1;287(23):19550-63. doi: 10.1074/jbc.M112.351908.
  2. Bultema JJ, Di Pietro SM. Cell type-specific Rab32 and Rab38 cooperate withthe ubiquitous lysosome biogenesis machinery to synthesize specializedlysosome-related organelles. Small GTPases. 2013 Jan-Mar;4(1):16-21. doi:10.4161/sgtp.22349.
  3. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of geneticdisorders of hypopigmentation: lessons learned from the biology of melanocytes.Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x.
  4. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V,Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinicalcharacteristics of patients with a form of oculocutaneous albinism(Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18):1258-64.
  5. Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA. BLOC-3 mutated inHermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr Biol. 2012 Nov 20;22(22):2135-9. doi: 10.1016/j.cub.2012.09.020.
  6. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders oflysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303.Review.
  7. Huizing M, Malicdan MCV, Gochuico BR, Gahl WA. Hermansky-Pudlak Syndrome. 2000Jul 24 [updated 2017 Oct 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1287/
  8. Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W,Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Clinical andcellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961.
  9. Hurford MT, Sebastiano C. Hermansky-pudlak syndrome: report of a case andreview of the literature. Int J Clin Exp Pathol. 2008 Jan 1;1(6):550-4.
  10. Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, HatanoM, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysisof HPS1 mutant protein. J Invest Dermatol. 2005 Oct;125(4):715-20.
  11. Li W, Feng Y, Hao C, Guo X, Cui Y, He M, He X. The BLOC interactomes form anetwork in endosomal transport. J Genet Genomics. 2007 Aug;34(8):669-82. Review.
  12. Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, SpritzRA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 andHermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J InvestDermatol. 2006 Jan;126(1):85-90.
  13. Wei AH, He X, Li W. Hypopigmentation in Hermansky-Pudlak syndrome. J Dermatol.2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025. Review.
  14. Wei AH, Li W. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defectsand their pathogenesis. Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi:10.1111/pcmr.12051.
  15. Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS,McCormack FX. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov15;186(10):1014-24. doi: 10.1164/rccm.201207-1206OC.
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Update Date: 23 Dec 2020
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