Rare Pediatrics News

Disease Profile

Hermansky-Pudlak syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

E70.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

HPS; Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; Hermansky Pudlak syndrome

Categories

Congenital and Genetic Diseases

Summary

Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis), and colitis. Symptoms of pulmonary fibrosis may get worse over time, and people with HPS are at increased risk for skin cancer. There are ten types of HPS each caused by a different non-working gene. This condition is inherited in an autosomal recessive fashion. HPS is diagnosed based on the symptoms and confirmed by genetic testing. Treatment is based on managing the symptoms.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with Hermansky-Pudlak syndrome (HPS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[2][4]

  • Decreased immune function (immunodeficiency)
  • Involuntary rapid eye movements (nystagmus)
  • Partial absent skin coloring (partial albinism)
  • Absent color in the eye (ocular albinism)
  • Lung scarring that gets worse with time (pulmonary fibrosis)
  • Inflammation of the colon (colitis)
  • Poor absorption of nutrients (malabsorption)

The symptoms of HPS are present at birth. Many babies have involuntary eye movements. Children with HPS may have lighter hair, eyes, and skin, than other family members. They may bruise easy and have vision problems. Gastrointestinal problems including stomach pain, diarrhea, and weight loss may occur in the teens. Some people with HPS develop scarring of the lungs over time (pulmonary fibrosis) which can be serious.[1][4]

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Immunodeficiency
Decreased immune function
0002721
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

 0001875
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Partial albinism
Partial absent skin pigmentation
0007443
30%-79% of people have these symptoms
Abnormality of the optic nerve
Optic nerve issue
0000587
Abnormality of visual evoked potentials
0000649
Amblyopia
Lazy eye
Wandering eye

[ more ]

 0000646
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

 0000978
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

 0000518
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

 0000421
Hypopigmentation of hair
Loss of hair color
0005599
Menometrorrhagia
0400008
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

 0000545
Ocular albinism
Absent pigmentation in the eye
0001107
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

 0000613
Pulmonary fibrosis
0002206
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

 0000083
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

 0000486
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

 0002027
Abnormal thrombocyte morphology
Platelet abnormalities
0001872
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

 0000682
Anorexia
0002039
Basal cell carcinoma
0002671
Cardiomyopathy
Disease of the heart muscle
0001638
Dyspnea
Trouble breathing
0002094
Fatigue
Tired
Tiredness

[ more ]

 0012378
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hyperkeratosis
0000962
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes

[ more ]

 0000527
Malabsorption
Intestinal malabsorption
0002024
Melanocytic nevus
Beauty mark
0000995
Squamous cell carcinoma of the skin
0006739
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Abnormal hair morphology
Abnormality of the hair
Hair abnormality

[ more ]

 0001595
Albinism
0001022
Autosomal recessive inheritance
0000007
Blindness
0000618
Colitis
0002583
Freckles in sun-exposed areas
0007603
Freckling
0001480
Gingival bleeding
Bleeding gums
0000225
Hematochezia
Rectal bleeding
0002573
Prolonged bleeding time
0003010
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Severely reduced visual acuity
Marked vision impairment
Severe visual impairment
Severely impaired vision

[ more ]

 0001141

Cause

Hermansky-Pudlak syndrome (HPS) occurs when there is a gene not working correctly. There are ten different genes associated with HPS. These include AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, and HPS6. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1]

Diagnosis

Hermansky-Pudlak syndrome (HPS) is diagnosed through a clinical exam. The diagnosis is confirmed by genetic testing. Some HPS genes are more common in people from certain ethnic groups. For example, the HPS1 gene is found more often in people with HPS from Puerto Rico.[3][5]

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.

    Treatment

    Treatment for Hermansky-Pudlak syndrome (HPS) is based on preventing and/or managing the symptoms and complications.[4][5]

    Specialists who may be involved in the care of someone with Hermansky-Pudlak syndrome include:

    • Medical geneticist
    • Ophthalmologist
    • Dermatologist
    • Hematologist
    • Gastroenterologist
    • Pulmonologist

    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

      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. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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. Click on the link to view a sample search on this topic.

          References

          1. Huizing M, Malicdan MCV, Gochuico BR, Gahl, WA. Hermansky-Pudlak Syndrome. GeneReviews. Updated Oct. 16, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1287.
          2. El-Chemaly S, Young LR. Hermansky-Pudlak Syndrome. Clin Chest Med. 2016; 37(3):505-51. https://pubmed.ncbi.nlm.nih.gov/27514596.
          3. De Jesus Rojas W, Young LR. Hermansky-Pudlak Syndrome. Semin Respir Crit Care Med. 2020; 41(2):238-246. https://pubmed.ncbi.nlm.nih.gov/32279294.
          4. Seward SL Jr, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 2013; 132(1):153-160. https://pubmed.ncbi.nlm.nih.gov/23753089.
          5. Loredana Asztalos M, Schafernak KT, Gray J, Berry A, Paller AS, Mancini AJ. Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. Pediatr Dermatol. 2017; 34(6):638-646. https://pubmed.ncbi.nlm.nih.gov/29044644.

          Rare Pediatrics News