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Hermansky-Pudlak syndrome 9(HPS9)

MedGen UID:
481656
Concept ID:
C3280026
Disease or Syndrome
Synonym: HPS9
 
Gene (location): BLOC1S6 (15q21.1)
 
Monarch Initiative: MONDO:0013606
OMIM®: 614171
Orphanet: ORPHA280663

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

Clinical features

From HPO
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Abnormal platelet aggregation
MedGen UID:
154224
Concept ID:
C0541767
Finding
An abnormality 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.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
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.
Hypopigmentation of the fundus
MedGen UID:
101805
Concept ID:
C0151891
Disease or Syndrome
Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).

Professional guidelines

PubMed

Chan KS, Bohnsack BL, Ing A, Drackley A, Castelluccio V, Zhang KX, Ralay-Ranaivo H, Rossen JL
Genes (Basel) 2023 Jan 3;14(1) doi: 10.3390/genes14010135. PMID: 36672876Free PMC Article

Recent clinical studies

Etiology

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
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Seward SL Jr, Gahl WA
Pediatrics 2013 Jul;132(1):153-60. Epub 2013 Jun 10 doi: 10.1542/peds.2012-4003. PMID: 23753089
Mártinez-García M, Montoliu L
J Dermatol 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. PMID: 23668539

Diagnosis

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
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
Seward SL Jr, Gahl WA
Pediatrics 2013 Jul;132(1):153-60. Epub 2013 Jun 10 doi: 10.1542/peds.2012-4003. PMID: 23753089

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
Clin Transl Med 2021 Jul;11(7):e471. doi: 10.1002/ctm2.471. PMID: 34323400Free PMC Article
Ishihara J, Mizuochi T, Uchida T, Takaki Y, Konishi KI, Joo M, Takahashi Y, Yoshioka S, Kusano H, Sasahara Y, Yamashita Y
BMC Gastroenterol 2019 Jan 11;19(1):9. doi: 10.1186/s12876-019-0929-9. PMID: 30634918Free PMC Article
El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR
Front Immunol 2018;9:76. Epub 2018 Jan 31 doi: 10.3389/fimmu.2018.00076. PMID: 29445374Free PMC Article
Grucela AL, Patel P, Goldstein E, Palmon R, Sachar DB, Steinhagen RM
Am J Gastroenterol 2006 Sep;101(9):2090-5. Epub 2006 Jul 18 doi: 10.1111/j.1572-0241.2006.00733.x. PMID: 16848805

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
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
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
Grucela AL, Patel P, Goldstein E, Palmon R, Sachar DB, Steinhagen RM
Am J Gastroenterol 2006 Sep;101(9):2090-5. Epub 2006 Jul 18 doi: 10.1111/j.1572-0241.2006.00733.x. PMID: 16848805

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
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR
Orphanet J Rare Dis 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PMID: 30791930Free PMC Article
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

Recent systematic reviews

Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972

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