Hermansky Pudlak syndrome 2

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Other Names:

HPS2; Hermansky-Pudlak syndrome 2; Platelet defects and oculocutaneous albinism

Categories:

Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Immune System Diseases; Metabolic disorders; Skin Diseases See More

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 183678

Definition

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

Epidemiology

To date HPS-2 has been described in eight patients.

Clinical description

HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. Women may present with medically significant menstrual bleeding. In addition, HPS-2 patients present with recurrent infections due to neutropenia and impaired cytotoxic activity. Recently, pulmonary fibrosis has been described in some HPS-2 cases.

Etiology

HPS-2 is caused by mutations in the AP3B1 gene (5q14.1) and is transmitted in an autosomal recessive manner. The gene product is the Beta 3A subunit of adaptor protein 3 (AP3), involved in vesicle formation and protein sorting.

Management and treatment

The neutropenia is responsive to granulocyte-cell stimulating factor (G-CSF).

Visit the Orphanet disease page for more resources.

Last updated: 3/1/2010

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Acetabular dysplasia		0008807
Albinism		0001022
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Chronic oral candidiasis	Chronic oral thrush	0009098
Coarse facial features	Coarse facial appearance	0000280
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Fair hair	Blond hair Fair hair color Flaxen hair color Light colored hair Sandy hair color Straw colored hair Towhead (hair color) [ more ]	0002286
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Hepatomegaly	Enlarged liver	0002240
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Horizontal nystagmus		0000666
Impaired ADP-induced platelet aggregation		0004866
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Mild global developmental delay		0011342
Motor delay		0001270
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Periodontitis		0000704
Photophobia	Extreme sensitivity of the eyes to light Light hypersensitivity [ more ]	0000613
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Prolonged bleeding time		0003010
Recurrent abscess formation		0002722
Recurrent bacterial infections	Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ]	0002718
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent pneumonia		0006532
Reduced natural killer cell activity		0012178
Reduced natural killer cell count		0040218
Reduced visual acuity	Decreased clarity of vision	0007663
Splenomegaly	Increased spleen size	0001744
Thin upper lip vermilion	Thin upper lip	0000219
Thrombocytopenia	Low platelet count	0001873
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Percent of people who have these symptoms is not available through HPO
Aberrant melanosome maturation		0007384
Autosomal recessive inheritance		0000007
Congenital onset	Symptoms present at birth	0003577
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Ocular albinism	Absent pigmentation in the eye	0001107
Pulmonary fibrosis		0002206
Smooth philtrum		0000319
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582

Showing of 42 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2021

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Hermansky Pudlak syndrome 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Hermansky-Pudlak Syndrome Network, Inc.
1 South Road
Oyster Bay, NY 11771-1905
Toll-free: 800-789-9477
Fax: 516-624-0640
E-mail: info@hpsnetwork.org
Website: http://www.hpsnetwork.org
Platelet Disorder Support Association
8751 Brecksville Road
Suite 150
Cleveland, OH 44141
Toll-free: 87-PLATELET (1-877-528-3538)
Telephone: 440-746-9003
Fax: 844-270-1277
E-mail: pdsa@pdsa.org
Website: http://www.pdsa.org/
The National Organization of Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH 03826-0959
Toll-free: 800-473-2310;
Telephone: 603-887-2310
E-mail: noah@albinism.org
Website: http://www.albinism.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Hermansky Pudlak syndrome 2. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Dermatologic Manifestations of Hermansky-Pudlak syndrome
Hermansky Pudlak syndrome - Ophthalmology
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Hermansky Pudlak syndrome 2. Click on the link to view a sample search on this topic.

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