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Hermansky-Pudlak syndrome 3(HPS3)

MedGen UID:
854708
Concept ID:
C3888001
Disease or Syndrome
Synonym: HPS3
 
Gene (location): HPS3 (3q24)
 
Monarch Initiative: MONDO:0013555
OMIM®: 614072

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-3 (HPS3) is characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Clinically, affected individuals have a bleeding diathesis, horizontal nystagmus, decreased vision and very mild pigment dilution of hair, skin, and irides (summary by Anikster et al., 2001). For a phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300).  http://www.omim.org/entry/614072

Clinical features

From HPO
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
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.
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.
Spontaneous, recurrent epistaxis
MedGen UID:
816045
Concept ID:
C3809715
Finding
Abnormal number of dense granules
MedGen UID:
868467
Concept ID:
C4022861
Anatomical Abnormality
A deviation from the normal count of dense granules per thrombocyte.
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).
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.
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.
Hypopigmentation of hair
MedGen UID:
480031
Concept ID:
C3278401
Finding
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Congenital nystagmus
MedGen UID:
195995
Concept ID:
C0700501
Congenital Abnormality
Nystagmus dating from or present at birth.
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.

Professional guidelines

PubMed

Homma S, Ebina M, Kuwano K, Goto H, Sakai F, Sakamoto S, Johkoh T, Sugino K, Tachibana T, Terasaki Y, Nishioka Y, Hagiwara K, Hashimoto N, Hasegawa Y, Hebisawa A; Ministry of Health, Labour and Welfare, the Study Group on Diffuse Pulmonary Disorders, Scientific Research/Research on Intractable Diseases, and Japanese Respiratory Society
Respir Investig 2021 Jan;59(1):8-33. Epub 2020 Jul 2 doi: 10.1016/j.resinv.2020.04.004. PMID: 32622842

Recent clinical studies

Clinical prediction guides

Kiener S, Kehl A, Loechel R, Langbein-Detsch I, Müller E, Bannasch D, Jagannathan V, Leeb T
Genes (Basel) 2020 Jun 9;11(6) doi: 10.3390/genes11060636. PMID: 32526956Free PMC Article
Wolkow N, Li Y, Maminishkis A, Song Y, Alekseev O, Iacovelli J, Song D, Lee JC, Dunaief JL
Exp Eye Res 2014 Nov;128:92-101. Epub 2014 Sep 30 doi: 10.1016/j.exer.2014.09.010. PMID: 25277027Free PMC Article

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