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Hermansky-Pudlak syndrome 4(HPS4)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: HPS4
Gene (location): HPS4 (22q12.1)
Monarch Initiative: MONDO:0013556
OMIM®: 614073

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]
Wendy J Introne  |  Marjan Huizing  |  May Christine V Malicdan, et. al.   view full author information

Additional description

Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300).  http://www.omim.org/entry/614073

Clinical features

From HPO
MedGen UID:
Concept ID:
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
MedGen UID:
Concept ID:
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Abnormal bleeding
MedGen UID:
Concept ID:
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Abnormal platelet granules
MedGen UID:
Concept ID:
Anatomical Abnormality
An anomaly of alpha or dense granules or platelet lysosomes.
Pulmonary fibrosis
MedGen UID:
Concept ID:
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Restrictive ventilatory defect
MedGen UID:
Concept ID:
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Bruising susceptibility
MedGen UID:
Concept ID:
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.
Ocular albinism
MedGen UID:
Concept ID:
Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Reduced visual acuity
MedGen UID:
Concept ID:
Diminished clarity of vision.
Horizontal nystagmus
MedGen UID:
Concept ID:
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Hypoplasia of the fovea
MedGen UID:
Concept ID:
Underdevelopment of the fovea centralis.

Professional guidelines


O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
Feliciano NZ, Rivera E, Agrait E, Rodriguez K
J Dent Child (Chic) 2006 Jan-Apr;73(1):51-6. PMID: 16734315
Badolato R, Fontana S, Notarangelo LD, Savoldi G
Curr Opin Allergy Clin Immunol 2004 Dec;4(6):513-21. doi: 10.1097/00130832-200412000-00007. PMID: 15640692

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