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Hermansky-Pudlak syndrome 11(HPS11)

MedGen UID:
1727728
Concept ID:
C5436936
Disease or Syndrome
Synonym: HPS11
 
Gene (location): BLOC1S5 (6p24.3)
 
Monarch Initiative: MONDO:0030903
OMIM®: 619172

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, and/or immunodeficiency. Ocular findings include nystagmus, reduced iris pigment, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), and strabismus in many individuals. Hair color ranges from white to brown; skin color ranges from white to olive and is usually at least a shade lighter than that of other family members. The bleeding diathesis can result in variable degrees of bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and/or other surgeries. Pulmonary fibrosis, colitis, and/or neutropenia have been reported in individuals with pathogenic variants in some HPS-related genes. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early 30s 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:
Wendy J Introne  |  Marjan Huizing  |  May Christine V Malicdan, et. al.   view full author information

Additional description

From OMIM
Hermansky-Pudlak syndrome-11 (HPS11) is characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis. Patients lack detectable platelet dense granules, and show mildly impaired activation-induced ATP release and platelet aggregation in vitro (Pennamen et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300).  http://www.omim.org/entry/619172

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
Concept ID:
C4024703
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Reduced platelet dense granules
MedGen UID:
1785275
Concept ID:
C5539663
Finding
Decreased number of platelet dense granules, a type of platelet organelle.
Albinism
MedGen UID:
182
Concept ID:
C0001916
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Melanocytic nevus
MedGen UID:
14364
Concept ID:
C0027962
Neoplastic Process
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
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.
Fair hair
MedGen UID:
336542
Concept ID:
C1849221
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Iris transillumination defect
MedGen UID:
786045
Concept ID:
C1096099
Anatomical Abnormality
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Foveal hypoplasia
MedGen UID:
393047
Concept ID:
C2673946
Finding
Underdevelopment of the fovea centralis.

Professional guidelines

PubMed

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
Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA
AJR Am J Roentgenol 2002 Oct;179(4):887-92. doi: 10.2214/ajr.179.4.1790887. PMID: 12239031

Recent clinical studies

Etiology

Arcot Sadagopan K, Teng CH, Hui G, Lin DL
Ophthalmic Genet 2023 Feb;44(1):54-69. Epub 2022 Oct 31 doi: 10.1080/13816810.2022.2135109. PMID: 36316991
Banushi B, Simpson F
Cells 2022 Nov 21;11(22) doi: 10.3390/cells11223702. PMID: 36429129Free PMC Article
Santos Malave G, Izquierdo NJ, Sanchez NP
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Eur J Med Genet 2019 Nov;62(11):103583. Epub 2018 Nov 22 doi: 10.1016/j.ejmg.2018.11.017. PMID: 30472485
Huizing M, Anikster Y, Gahl WA
Traffic 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. PMID: 11208073

Diagnosis

Nazir HF, Al Sukaiti N, Khater D, Elbeshlawy I, Hassanein N
J Pediatr Hematol Oncol 2023 Apr 1;45(3):e389-e394. Epub 2022 Sep 21 doi: 10.1097/MPH.0000000000002552. PMID: 36162005
Santos Malave G, Izquierdo NJ, Sanchez NP
Orphanet J Rare Dis 2022 Jul 30;17(1):305. doi: 10.1186/s13023-022-02464-w. PMID: 35907869Free PMC Article
Ambur AB, Nyckowski TA
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Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B
Genet Med 2020 Oct;22(10):1613-1622. Epub 2020 Jun 22 doi: 10.1038/s41436-020-0867-5. PMID: 32565547Free PMC Article

Therapy

Cinar R, Park JK, Zawatsky CN, Coffey NJ, Bodine SP, Abdalla J, Yokoyama T, Jourdan T, Jay L, Zuo MXG, O'Brien KJ, Huang J, Mackie K, Alimardanov A, Iyer MR, Gahl WA, Kunos G, Gochuico BR, Malicdan MCV
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Valera MC, Kemoun P, Cousty S, Sie P, Payrastre B
J Oral Pathol Med 2013 Feb;42(2):115-24. Epub 2012 May 15 doi: 10.1111/j.1600-0714.2012.01151.x. PMID: 22583386
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Am J Hematol 1998 Oct;59(2):115-20. doi: 10.1002/(sici)1096-8652(199810)59:2<115::aid-ajh3>3.0.co;2-0. PMID: 9766795

Prognosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A
Eur J Med Genet 2019 Nov;62(11):103583. Epub 2018 Nov 22 doi: 10.1016/j.ejmg.2018.11.017. PMID: 30472485
Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI
Nature 2018 Nov;563(7733):646-651. Epub 2018 Nov 7 doi: 10.1038/s41586-018-0686-x. PMID: 30405244Free PMC Article
Michaud V, Lasseaux E, Plaisant C, Verloes A, Perdomo-Trujillo Y, Hamel C, Elcioglu NH, Leroy B, Kaplan J, Jouk PS, Lacombe D, Fergelot P, Morice-Picard F, Arveiler B
Pigment Cell Melanoma Res 2017 Jan;30(6):563-570. Epub 2017 Oct 20 doi: 10.1111/pcmr.12608. PMID: 28640947
Witkop CJ, Almadovar C, Piñeiro B, Nuñez Babcock M
Ophthalmic Paediatr Genet 1990 Sep;11(3):245-50. doi: 10.3109/13816819009020986. PMID: 2280982

Clinical prediction guides

Arcot Sadagopan K, Teng CH, Hui G, Lin DL
Ophthalmic Genet 2023 Feb;44(1):54-69. Epub 2022 Oct 31 doi: 10.1080/13816810.2022.2135109. PMID: 36316991
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Eskazan T, Erturkuner SP, Isildar B, Eskazan AE, Ar MC, Atay K, Baslar Z, Tasyurekli M
Ultrastruct Pathol 2019;43(1):94-98. Epub 2019 Apr 1 doi: 10.1080/01913123.2019.1593269. PMID: 30932722
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A
Eur J Med Genet 2019 Nov;62(11):103583. Epub 2018 Nov 22 doi: 10.1016/j.ejmg.2018.11.017. PMID: 30472485
Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA
AJR Am J Roentgenol 2002 Oct;179(4):887-92. doi: 10.2214/ajr.179.4.1790887. PMID: 12239031

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