U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Authors:

Additional description

From OMIM
Hermansky-Pudlak syndrome-9 (HPS9) is characterized by oculocutaneous albinism, with patients exhibiting hypopigmented hair, skin, and irises. Ocular symptoms include nystagmus, photophobia, and reduced visual acuity. Patients may also experience recurrent infections associated with leukopenia, as well as bruising or bleeding due to thrombocytopenia and platelet dysfunction (Badolato et al., 2012; Yousaf et al., 2016).  http://www.omim.org/entry/614171

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.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Leukopenia
MedGen UID:
6073
•Concept ID:
C0023530
•
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
See: Feature record | Search on this feature
Recurrent skin infections
MedGen UID:
377848
•Concept ID:
C1853193
•
Disease or Syndrome
Infections of the skin that happen multiple times.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
Parisi X, Bledsoe JR
J Clin Pathol 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686. PMID: 38589208
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
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

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
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
Hermansky-Pudlak syndrome: Mutation update.
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
Albinism in Europe.
Mártinez-García M, Montoliu L
J Dermatol 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. PMID: 23668539
Hermansky-Pudlak syndrome in pregnancy.
Spencer J, Rosengren S
Am J Perinatol 2009 Oct;26(9):617-9. Epub 2009 Apr 15 doi: 10.1055/s-0029-1220777. PMID: 19370510
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA
Annu Rev Genomics Hum Genet 2008;9:359-86. doi: 10.1146/annurev.genom.9.081307.164303. PMID: 18544035Free PMC Article

Diagnosis

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
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
Severe hidradenitis suppurativa in a patient affected by Hermansky-Pudlak Syndrome type 9: possible shared pathogenetic aspects.
Sechi A, Tartari F, Patrizi A, Virdi A, Leuzzi M, Neri I
Ital J Dermatol Venerol 2021 Apr;156(2):254-255. Epub 2021 Jan 11 doi: 10.23736/S2784-8671.20.06602-X. PMID: 33423449
Hermansky-Pudlak syndrome: Mutation update.
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
Hermansky-Pudlak syndrome: health care throughout life.
Seward SL Jr, Gahl WA
Pediatrics 2013 Jul;132(1):153-60. Epub 2013 Jun 10 doi: 10.1542/peds.2012-4003. PMID: 23753089
Hermansky-Pudlak syndrome in pregnancy.
Spencer J, Rosengren S
Am J Perinatol 2009 Oct;26(9):617-9. Epub 2009 Apr 15 doi: 10.1055/s-0029-1220777. PMID: 19370510

Therapy

CB(1) R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome.
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
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.
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
The Immunome in Two Inherited Forms of Pulmonary Fibrosis.
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
Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.
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

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
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
Hermansky-Pudlak syndrome: Mutation update.
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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
Predictable and precise template-free CRISPR editing of pathogenic variants.
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
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA
Traffic 2004 Sep;5(9):711-22. doi: 10.1111/j.1600-0854.2004.00208.x. PMID: 15296495

Clinical prediction guides

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome.
Sorkhdini P, Klubock-Shukla K, Sheth S, Yang D, Yang AX, Norbrun C, Introne WJ, Gochuico BR, Zhou Y
JCI Insight 2024 Nov 22;9(22) doi: 10.1172/jci.insight.178381. PMID: 39405112Free PMC Article
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
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
Hermansky-Pudlak syndrome: Mutation update.
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
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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
Predictable and precise template-free CRISPR editing of pathogenic variants.
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

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...