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Hermansky-Pudlak syndrome 8(HPS8)

MedGen UID:
433287
Concept ID:
CN068492
Disease or Syndrome
Synonyms: Hermansky-Pudlak Syndrome; HPS8
 
Gene: BLOC1S3
Cytogenetic location: 19q13.32
OMIM®: 614077

Disease characteristics

Excerpted from the GeneReview: Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of 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 easy bruising, frequent 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 are associated primarily with HPS-2. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
William A Gahl  |  Marjan Huizing   view full author information

Recent clinical studies

Etiology

Beesley RD, Robinson RD, Stewart TL
Mil Med 2008 Oct;173(10):1048-9. PMID: 19160629
Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P
Clin Gastroenterol Hepatol 2006 Jan;4(1):73-80. PMID: 16431308
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, Spritz RA, Cadilla CL
J Invest Dermatol 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034. PMID: 16417222Free PMC Article
Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W
Ophthalmology 2004 Aug;111(8):1599-603. doi: 10.1016/j.ophtha.2003.12.058. PMID: 15288994
Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B
Mol Genet Metab 2002 Jul;76(3):234-42. PMID: 12126938

Diagnosis

Minkin P, Bertetti R, Lindsey S, Bovino B
J Oral Maxillofac Surg 2015 Feb;73(2):219-23. Epub 2014 Sep 16 doi: 10.1016/j.joms.2014.08.037. [Epub ahead of print] PMID: 25579005
Lorenzi L, Tabellini G, Vermi W, Moratto D, Porta F, Notarangelo LD, Patrizi O, Sozzani S, de Saint Basile G, Latour S, Pace D, Lonardi S, Facchetti F, Badolato R, Parolini S
PLoS One 2013;8(11):e80131. Epub 2013 Nov 26 doi: 10.1371/journal.pone.0080131. PMID: 24302998Free PMC Article
Lohse J, Gehrisch S, Tauer JT, Knöfler R
Hamostaseologie 2011 Nov;31 Suppl 1:S61-3. PMID: 22057877
Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA
J Invest Dermatol 2011 Dec;131(12):2394-400. Epub 2011 Aug 11 doi: 10.1038/jid.2011.228. [Epub ahead of print] PMID: 21833017Free PMC Article
Mora AJ, Wolfsohn DM
J Clin Gastroenterol 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742. PMID: 21085008

Therapy

Lohse J, Gehrisch S, Tauer JT, Knöfler R
Hamostaseologie 2011 Nov;31 Suppl 1:S61-3. PMID: 22057877
Mora AJ, Wolfsohn DM
J Clin Gastroenterol 2011 Sep;45(8):700-2. doi: 10.1097/MCG.0b013e3181fd2742. PMID: 21085008
Beesley RD, Robinson RD, Stewart TL
Mil Med 2008 Oct;173(10):1048-9. PMID: 19160629
Cordova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C, Santiago-Borrero PJ
Pediatr Blood Cancer 2005 Jan;44(1):51-4. doi: 10.1002/pbc.20210. PMID: 15368543
Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B
Mol Genet Metab 2002 Jul;76(3):234-42. PMID: 12126938

Prognosis

Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA
J Invest Dermatol 2011 Dec;131(12):2394-400. Epub 2011 Aug 11 doi: 10.1038/jid.2011.228. [Epub ahead of print] PMID: 21833017Free PMC Article
Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS
J Biol Chem 2010 Mar 5;285(10):7794-804. Epub 2010 Jan 4 doi: 10.1074/jbc.M109.069088. [Epub ahead of print] PMID: 20048159Free PMC Article
Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA
Hum Mutat 2002 Dec;20(6):482. doi: 10.1002/humu.9097. PMID: 12442288
Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B
Mol Genet Metab 2002 Jul;76(3):234-42. PMID: 12126938
Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I
N Engl J Med 1998 Apr 30;338(18):1258-64. doi: 10.1056/NEJM199804303381803. PMID: 9562579

Clinical prediction guides

Yang Q, He X, Yang L, Zhou Z, Cullinane AR, Wei A, Zhang Z, Hao Z, Zhang A, He M, Feng Y, Gao X, Gahl WA, Huizing M, Li W
Traffic 2012 Aug;13(8):1160-9. Epub 2012 May 28 doi: 10.1111/j.1600-0854.2012.01375.x. [Epub ahead of print] PMID: 22554196Free PMC Article
Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS
J Biol Chem 2010 Mar 5;285(10):7794-804. Epub 2010 Jan 4 doi: 10.1074/jbc.M109.069088. [Epub ahead of print] PMID: 20048159Free PMC Article
Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, Bauer JJ
Colorectal Dis 2006 Sep;8(7):539-43. doi: 10.1111/j.1463-1318.2006.01046.x. PMID: 16919103
Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P
Clin Gastroenterol Hepatol 2006 Jan;4(1):73-80. PMID: 16431308
Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B
Mol Genet Metab 2002 Jul;76(3):234-42. PMID: 12126938

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