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Hermansky-Pudlak syndrome(HPS1)

MedGen UID:
36313
Concept ID:
C0079504
Disease or Syndrome
Synonyms: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; Delta storage pool disease; HPS1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hermansky-Pudlak syndrome (9311003); Albinism with hemorrhagic diathesis (9311003); Alpha storage pool disease (9311003); Hermansky Pudlak syndrome (9311003)
 
Related genes: BLOC1S3, HPS4, HPS3, DTNBP1, HPS6, BLOC1S6, HPS5, AP3B1, HPS1
OMIM® Phenotypic series: PS203300
Orphanet: ORPHA79430

Disease characteristics

Excerpted from the GeneReview: Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include 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 variable bruising, 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 occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. [from GeneReviews]
Authors:
Marjan Huizing  |  May Christine V Malicdan  |  Bernadette R Gochuico, et. al.   view full author information

Additional description

From GHR
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. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding.Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems.Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure.There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. Little is known about the signs, symptoms, and severity of types 7, 8, and 9.  https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome

Recent clinical studies

Etiology

Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC
PLoS One 2017;12(3):e0173682. Epub 2017 Mar 15 doi: 10.1371/journal.pone.0173682. PMID: 28296950Free PMC Article
Andres O, Wiegering V, König EM, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H
Pediatr Blood Cancer 2017 May;64(5) Epub 2016 Dec 4 doi: 10.1002/pbc.26320. PMID: 27917594
Jardón J, Izquierdo NJ, Renta JY, García-Rodríguez O, Cadilla CL
Ophthalmic Genet 2016;37(1):89-94. Epub 2014 Apr 28 doi: 10.3109/13816810.2014.907920. PMID: 24766090Free PMC Article
Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA
J Clin Invest 2015 Aug 3;125(8):3178-92. Epub 2015 Jun 29 doi: 10.1172/JCI79792. PMID: 26121745Free PMC Article
Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V
Mol Biol Cell 2013 Jul;24(14):2269-84. Epub 2013 May 15 doi: 10.1091/mbc.E13-02-0088. PMID: 23676666Free PMC Article

Diagnosis

Loredana Asztalos M, Schafernak KT, Gray J, Berry A, Paller AS, Mancini AJ
Pediatr Dermatol 2017 Nov;34(6):638-646. Epub 2017 Oct 16 doi: 10.1111/pde.13266. PMID: 29044644
Gil-Krzewska A, Murakami Y, Peruzzi G, O'Brien KJ, Merideth MA, Cullinane AR, Gahl WA, Coligan JE, Gochuico BR, Krzewski K
Br J Haematol 2017 Jan;176(1):118-123. Epub 2016 Oct 21 doi: 10.1111/bjh.14390. PMID: 27766632Free PMC Article
Christensen S, Wagner L, Coleman MM, Appell D
Chronic Illn 2017 Mar;13(1):62-72. Epub 2016 Jul 8 doi: 10.1177/1742395316655854. PMID: 27358286
Wei A, Yuan Y, Bai D, Ma J, Hao Z, Zhang Y, Yu J, Zhou Z, Yang L, Yang X, Li L, Li W
Pigment Cell Melanoma Res 2016 Nov;29(6):702-706. Epub 2016 Oct 19 doi: 10.1111/pcmr.12534. PMID: 27593200
Sharda A, Kim SH, Jasuja R, Gopal S, Flaumenhaft R, Furie BC, Furie B
Blood 2015 Mar 5;125(10):1633-42. Epub 2015 Jan 15 doi: 10.1182/blood-2014-08-597419. PMID: 25593336Free PMC Article

Therapy

Van Avermaete F, Muys J, Jacquemyn Y
BMJ Case Rep 2016 Nov 17;2016 doi: 10.1136/bcr-2016-217719. PMID: 27856532
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J
Ann Am Thorac Soc 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. PMID: 27529121Free PMC Article
Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, Gulati M, Gochuico BR, Gahl WA, Slade ML, Lee CG, Elias JA
J Clin Invest 2015 Aug 3;125(8):3178-92. Epub 2015 Jun 29 doi: 10.1172/JCI79792. PMID: 26121745Free PMC Article
Bachmann C, Abele H, Wallwiener D, Kagan KO
Arch Gynecol Obstet 2014 Jun;289(6):1193-5. Epub 2013 Dec 13 doi: 10.1007/s00404-013-3110-7. PMID: 24337786
Ciledağ A, Cirit Koçer B, Köktürk N, Kaya A, Celik G, Numanoğlu N
Tuberk Toraks 2011;59(1):85-8. PMID: 21554237

Prognosis

Bin Saeedan M, Faheem Mohammed S, Mohammed TL
Curr Probl Diagn Radiol 2015 Jul-Aug;44(4):383-5. Epub 2015 Jan 30 doi: 10.1067/j.cpradiol.2015.01.003. PMID: 25728501
Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B
Am J Respir Crit Care Med 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC. PMID: 25347450Free PMC Article
Furuhashi K, Enomoto N, Fujisawa T, Hashimoto D, Inui N, Nakamura Y, Suda T
Intern Med 2014;53(5):449-53. PMID: 24583434
Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD
BMC Med Genet 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42. PMID: 23557002Free PMC Article
Ciledağ A, Cirit Koçer B, Köktürk N, Kaya A, Celik G, Numanoğlu N
Tuberk Toraks 2011;59(1):85-8. PMID: 21554237

Clinical prediction guides

Nakayama T, Nakajima K, Cox A, Fisher M, Howell M, Fish MB, Yaoita Y, Grainger RM
Dev Biol 2017 Jun 15;426(2):472-486. Epub 2016 Sep 3 doi: 10.1016/j.ydbio.2016.08.020. PMID: 27595926
Van Avermaete F, Muys J, Jacquemyn Y
BMJ Case Rep 2016 Nov 17;2016 doi: 10.1136/bcr-2016-217719. PMID: 27856532
Ahuja S, Knudsen L, Chillappagari S, Henneke I, Ruppert C, Korfei M, Gochuico BR, Bellusci S, Seeger W, Ochs M, Guenther A, Mahavadi P
Am J Physiol Lung Cell Mol Physiol 2016 Mar 15;310(6):L519-31. Epub 2015 Dec 30 doi: 10.1152/ajplung.00213.2015. PMID: 26719147Free PMC Article
Trimble A, Gochuico BR, Markello TC, Fischer R, Gahl WA, Lee JK, Kim Y, Burdick MD, Strieter RM, Mehrad B
Am J Respir Crit Care Med 2014 Dec 15;190(12):1395-401. doi: 10.1164/rccm.201407-1287OC. PMID: 25347450Free PMC Article
Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD
BMC Med Genet 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42. PMID: 23557002Free PMC Article

Recent systematic reviews

Sánchez-Guiu I, Torregrosa JM, Velasco F, Antón AI, Lozano ML, Vicente V, Rivera J
Hamostaseologie 2014;34(4):301-9. Epub 2014 Aug 13 doi: 10.5482/HAMO-14-06-0024. PMID: 25117010
White JG
Crit Rev Oncol Hematol 1986;4(4):337-77. PMID: 3513985

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