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Hermansky-Pudlak syndrome 7(HPS7)

MedGen UID:
481386
Concept ID:
C3279756
Disease or Syndrome
Synonyms: Hermansky-Pudlak Syndrome; HPS7
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)
 
Gene (location): DTNBP1 (6p22.3)
OMIM®: 614076
Orphanet: ORPHA231531

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]
Authors:
William A Gahl  |  Marjan Huizing   view full author information

Clinical features

Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Ocular albinism
MedGen UID:
38147
Concept ID:
C0078917
Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Reduced visual acuity
MedGen UID:
461148
Concept ID:
C3149798
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Impaired platelet aggregation
MedGen UID:
383786
Concept ID:
C1855853
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Achromasia
MedGen UID:
569448
Concept ID:
C0333913
Cell or Molecular Dysfunction
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Recent clinical studies

Etiology

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
Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC, Leslie K
Respiration 2006;73(3):382-95. Epub 2006 Feb 14 doi: 10.1159/000091609. PMID: 16490934
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
Di Pietro SM, Dell'Angelica EC
Traffic 2005 Jul;6(7):525-33. doi: 10.1111/j.1600-0854.2005.00299.x. PMID: 15941404
Huizing M, Gahl WA
Curr Mol Med 2002 Aug;2(5):451-67. PMID: 12125811

Diagnosis

Kirshenbaum AS, Cruse G, Desai A, Bandara G, Leerkes M, Lee CC, Fischer ER, O'Brien KJ, Gochuico BR, Stone K, Gahl WA, Metcalfe DD
PLoS One 2016;11(7):e0159177. Epub 2016 Jul 26 doi: 10.1371/journal.pone.0159177. PMID: 27459687Free PMC Article
Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, Rombach N, Busse A, Belohradsky BH, Müller-Höcker J, Aslanidis C, Schmitz G, Zieger B
Platelets 2013;24(7):538-43. Epub 2012 Dec 5 doi: 10.3109/09537104.2012.741275. PMID: 23215637
Zhou M, Gradstein L, Gonzales JA, Tsilou ET, Gahl WA, Chan CC
Arch Ophthalmol 2006 Jul;124(7):1048-51. doi: 10.1001/archopht.124.7.1048. PMID: 16832032Free PMC Article
Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC, Leslie K
Respiration 2006;73(3):382-95. Epub 2006 Feb 14 doi: 10.1159/000091609. PMID: 16490934
Takahashi K, Ishida T, Ogura G, Ishii T, Oshima K, Sato S, Muroi M, Kanazawa K, Saito J, Otsuka Y, Watanabe K, Handa M, Munakata M
Intern Med 2004 Oct;43(10):972-6. PMID: 15575250

Therapy

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
Holada K, Glierova H, Simak J, Vostal JG
Haematologica 2006 Aug;91(8):1126-9. PMID: 16885055
Antoniu SA
Expert Opin Investig Drugs 2006 Jul;15(7):823-8. doi: 10.1517/13543784.15.7.823 . PMID: 16787145
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

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
Ge S, Woo E, White JG, Haynes CL
Anal Chem 2011 Apr 1;83(7):2598-604. Epub 2011 Mar 8 doi: 10.1021/ac102929y. PMID: 21384903Free PMC Article
Zhou M, Gradstein L, Gonzales JA, Tsilou ET, Gahl WA, Chan CC
Arch Ophthalmol 2006 Jul;124(7):1048-51. doi: 10.1001/archopht.124.7.1048. PMID: 16832032Free PMC Article
Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC, Leslie K
Respiration 2006;73(3):382-95. Epub 2006 Feb 14 doi: 10.1159/000091609. PMID: 16490934
Takahashi K, Ishida T, Ogura G, Ishii T, Oshima K, Sato S, Muroi M, Kanazawa K, Saito J, Otsuka Y, Watanabe K, Handa M, Munakata M
Intern Med 2004 Oct;43(10):972-6. PMID: 15575250

Clinical prediction guides

Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, Wang Y, Zhou ZY, Zhang MR, Dai LL, Yang XM, Li W
J Invest Dermatol 2013 Jul;133(7):1834-40. Epub 2013 Jan 30 doi: 10.1038/jid.2013.49. PMID: 23364476
Chan WT, Sherer NM, Uchil PD, Novak EK, Swank RT, Mothes W
PLoS One 2008 Jul 16;3(7):e2713. doi: 10.1371/journal.pone.0002713. PMID: 18629000Free 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
Iwakawa J, Matsuyama W, Watanabe M, Yamamoto M, Oonakahara K, Machida K, Higashimoto I, Niiyama T, Osame M, Arimura K
Intern Med 2005 Jul;44(7):733-8. PMID: 16093596

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