Hermansky-Pudlak syndrome 3452820 216541459 2008-06-02T02:53:53Z Arcadian 104523 infobox {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 29161 | ICD10 = {{ICD10|E|70|3|e|70}}<BR>([[ILDS]] E70.360) | ICD9 = | ICDO = | OMIM = 203300 | MedlinePlus = | eMedicineSubj = oph | eMedicineTopic = 713 | eMedicine_mult = {{eMedicine2|derm|925}} | MeshID = D022861 | }} '''Hermansky-Pudlak Syndrome''' ('''HPS''') is an inherited disease which results in [[Albinism|oculocutaneous albinism]] (decreased [[pigmentation]]), bleeding problems due to a [[platelet]] abnormality ([[platelet storage pool defect]]), and storage of an abnormal fat-protein compound ([[lysosome|lysosomal]] accumulation of [[ceroid lipofuscin]]). Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. ==Eponym== It is named for [[Frantisek Hermansky]] and [[P. Pudlak]].<ref>{{WhoNamedIt|synd|2220}}</ref><ref>{{cite journal | author=Hermansky F, Pudlak P | title=Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies | journal=Blood | year=1959 | pages=162–9 | volume=14 | issue=2 | pmid=13618373}}</ref> ==Presentation== The disease can cause poor functioning of the [[lung]]s, [[intestine]], [[kidney]]s or [[heart]]. The major complication of the disease is [[pulmonary fibrosis]] and typically causes death in patients ages 40 - 50 years old. The disorder is common in [[Puerto Rico]],<ref name="pmid16417222">{{cite journal |author=Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, ''et al'' |title=Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico |journal=[[J. Invest. Dermatol.]] |volume=126 |issue=1 |pages=85–90 |year=2006 |month=January |pmid=16417222 |doi=10.1038/sj.jid.5700034 |url=http://dx.doi.org/10.1038/sj.jid.5700034}}</ref> where many of the clinical research studies on the disease have been conducted. ==Causes== HPS can be caused by [[mutation]]s in several [[gene]]s: [[HPS1]], [[HPS3]], [[HPS4]], [[HPS5]], [[HPS6]] and [[HPS7]]. HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the [[AP3B1]] gene. HPS type 7 may result from a mutation in the gene coding for [[dysbindin]] protein.<!-- --><ref name="pmid12923531">{{cite journal |author=Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT |title=Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) |journal=Nat. Genet. |volume=35 |issue=1 |pages=84–9 |year=2003 |pmid=12923531 |doi=10.1038/ng1229}}</ref> ==References== <div class="references-small"><references/></div> ==See also== * [[Biogenesis of lysosome-related organelles complex 1]] ==Further reading== * {{cite journal | author=Di Pietro SM, Dell'Angelica EC | title=The cell biology of Hermansky-Pudlak syndrome: recent advances | journal=Traffic | year=2005 | pages=525–33 | volume=6 | issue=7 | pmid=15941404 | doi=10.1111/j.1600-0854.2005.00299.x}} * {{cite journal | author=Scheinfeld NS | title=Syndromic albinism: a review of genetics and phenotypes | journal=Dermatol Online J | year=2003 | pages=5 | volume=9 | issue=5 | pmid=14996378}} * {{cite journal | author=Huizing M, Gahl WA | title=Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes | journal=Curr Mol Med | year=2002 | pages=451–67 | volume=2 | issue=5 | pmid=12125811 | doi=10.2174/1566524023362357}} * {{cite journal | author=Huizing M, Anikster Y, Gahl WA | title=Hermansky-Pudlak syndrome and related disorders of organelle formation | journal=Traffic | year=2000 | pages=823–35 | volume=1 | issue=11 | pmid=11208073 | doi=10.1034/j.1600-0854.2000.011103.x}} ==External links== * [http://www.hpsnetwork.org Hermansky-Pudlak Syndrome Network] {{Amino acid metabolic pathology}} [[Category:Albinism]] [[Category:Syndromes]] [[Category:Genetic disorders]] [[Category:Autosomal recessive disorders]] {{disease-stub}} {{genetics-stub}} [[fr:Syndrome de Hermansky-Pudlak]] [[de:Hermansky-Pudlak-Syndrom]]