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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Hypopigmentation


Psychiatry related information on Hypopigmentation


High impact information on Hypopigmentation


Chemical compound and disease context of Hypopigmentation


Biological context of Hypopigmentation


Anatomical context of Hypopigmentation


Gene context of Hypopigmentation

  • We herein present genetic and functional evidence that a third form of GS (GS3), whose expression is restricted to the characteristic hypopigmentation of GS, results from mutation in the gene that encodes melanophilin (Mlph), the ortholog of the gene mutated in leaden mice [10].
  • These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS [2].
  • While PTU is frequently used to induce hypopigmentation in biological systems, little is known about its effects on tyrosinase and other melanogenic proteins [26].
  • HPS-3 manifests with mild hypopigmentation and bleeding [27].
  • A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies [28].

Analytical, diagnostic and therapeutic context of Hypopigmentation


  1. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. Creel, D.J., Bendel, C.M., Wiesner, G.L., Wirtschafter, J.D., Arthur, D.C., King, R.A. N. Engl. J. Med. (1986) [Pubmed]
  2. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  3. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Schiaffino, M.V., Baschirotto, C., Pellegrini, G., Montalti, S., Tacchetti, C., De Luca, M., Ballabio, A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  4. Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2. Hodgkinson, C.A., Nakayama, A., Li, H., Swenson, L.B., Opdecamp, K., Asher, J.H., Arnheiter, H., Glaser, T. Hum. Mol. Genet. (1998) [Pubmed]
  5. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Feng, L., Seymour, A.B., Jiang, S., To, A., Peden, A.A., Novak, E.K., Zhen, L., Rusiniak, M.E., Eicher, E.M., Robinson, M.S., Gorin, M.B., Swank, R.T. Hum. Mol. Genet. (1999) [Pubmed]
  6. Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer. Nagasaki, Y., Matsubara, Y., Takano, H., Fujii, K., Senoo, M., Akanuma, J., Takahashi, K., Kure, S., Hara, M., Kanegae, Y., Saito, I., Narisawa, K. Pediatr. Res. (1999) [Pubmed]
  7. Penile shaft hypopigmentation: lichen sclerosus occurring after the initiation of alprostadil intracavernous injections for erectile dysfunction. English, J.C., King, D.H., Foley, J.P. J. Am. Acad. Dermatol. (1998) [Pubmed]
  8. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Bassi, M.T., Schiaffino, M.V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A.A., Lewis, R.A., Ballabio, A. Nat. Genet. (1995) [Pubmed]
  9. Redundant and alternative roles for activating Fc receptors and complement in an antibody-dependent model of autoimmune vitiligo. Trcka, J., Moroi, Y., Clynes, R.A., Goldberg, S.M., Bergtold, A., Perales, M.A., Ma, M., Ferrone, C.R., Carroll, M.C., Ravetch, J.V., Houghton, A.N. Immunity (2002) [Pubmed]
  10. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). Ménasché, G., Ho, C.H., Sanal, O., Feldmann, J., Tezcan, I., Ersoy, F., Houdusse, A., Fischer, A., de Saint Basile, G. J. Clin. Invest. (2003) [Pubmed]
  11. Hypopigmentation in the Prader-Willi syndrome. Wiesner, G.L., Bendel, C.M., Olds, D.P., White, J.G., Arthur, D.C., Ball, D.W., King, R.A. Am. J. Hum. Genet. (1987) [Pubmed]
  12. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Schnur, R.E., Trask, B.J., van den Engh, G., Punnett, H.H., Kistenmacher, M., Tomeo, M.A., Naids, R.E., Nussbaum, R.L. Am. J. Hum. Genet. (1989) [Pubmed]
  13. Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes. Potterf, S.B., Furumura, M., Sviderskaya, E.V., Santis, C., Bennett, D.C., Hearing, V.J. Exp. Cell Res. (1998) [Pubmed]
  14. Copper as an essential nutrient. Olivares, M., Uauy, R. Am. J. Clin. Nutr. (1996) [Pubmed]
  15. Parapapillary chorioretinal atrophy in normal and glaucoma eyes. I. Morphometric data. Jonas, J.B., Nguyen, X.N., Gusek, G.C., Naumann, G.O. Invest. Ophthalmol. Vis. Sci. (1989) [Pubmed]
  16. Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. Novak, E.K., McGarry, M.P., Swank, R.T. Blood (1985) [Pubmed]
  17. Anti-tyrosinase-related protein-2 immune response in vitiligo patients and melanoma patients receiving active-specific immunotherapy. Okamoto, T., Irie, R.F., Fujii, S., Huang, S.K., Nizze, A.J., Morton, D.L., Hoon, D.S. J. Invest. Dermatol. (1998) [Pubmed]
  18. Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Hakami, R.M., Hou, L., Baxter, L.L., Loftus, S.K., Southard-Smith, E.M., Incao, A., Cheng, J., Pavan, W.J. Mech. Dev. (2006) [Pubmed]
  19. Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11. Koiffmann, C.P., de Souza, D.H., Diament, A., Ventura, H.B., Alves, R.S., Kihara, S., Wajntal, A. Am. J. Med. Genet. (1993) [Pubmed]
  20. Sphingosylphosphorylcholine-induced ERK activation inhibits melanin synthesis in human melanocytes. Kim, D.S., Park, S.H., Kwon, S.B., Park, E.S., Huh, C.H., Youn, S.W., Park, K.C. Pigment Cell Res. (2006) [Pubmed]
  21. Clinical pattern of ocular manifestations in vitiligo. Biswas, G., Barbhuiya, J.N., Biswas, M.C., Islam, M.N., Dutta, S. Journal of the Indian Medical Association. (2003) [Pubmed]
  22. The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito). Weaver, R.G., Martin, T., Zanolli, M.D. Journal of pediatric ophthalmology and strabismus. (1991) [Pubmed]
  23. Treatment of extensive hypomelanosis with autologous cultured epithelium. Kumagai, N., Uchikoshi, T. Annals of plastic surgery. (1997) [Pubmed]
  24. A clinical variant of familial Hermansky-Pudlak syndrome. Iannello, S., Fabbri, G., Bosco, P., Cavaleri, A., Cantarella, S., Camuto, M., Milazzo, P., Romeo, F., Belfiore, F. MedGenMed [electronic resource] : Medscape general medicine. (2003) [Pubmed]
  25. Melanoma-associated hypopigmentation: where are the antibodies? Merimsky, O., Shoenfeld, Y., Baharav, E., Altomonte, M., Chaitchik, S., Maio, M., Ferrone, S., Fishman, P. Am. J. Clin. Oncol. (1996) [Pubmed]
  26. Degradation of tyrosinase induced by phenylthiourea occurs following Golgi maturation. Hall, A.M., Orlow, S.J. Pigment Cell Res. (2005) [Pubmed]
  27. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Huizing, M., Gahl, W.A. Curr. Mol. Med. (2002) [Pubmed]
  28. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Bondurand, N., Kuhlbrodt, K., Pingault, V., Enderich, J., Sajus, M., Tommerup, N., Warburg, M., Hennekam, R.C., Read, A.P., Wegner, M., Goossens, M. Hum. Mol. Genet. (1999) [Pubmed]
  29. Tuberous sclerosis and guttate leukodermas. Jimbow, K. Seminars in cutaneous medicine and surgery. (1997) [Pubmed]
  30. Linear hypopigmentation after triamcinolone injection: a rare complication of a common procedure. Nanda, V., Parwaz, M.A., Handa, S. Aesthetic plastic surgery. (2006) [Pubmed]
  31. Efficacy of spectacles in persons with albinism. Anderson, J., Lavoie, J., Merrill, K., King, R.A., Summers, C.G. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2004) [Pubmed]
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