Hermansky-Pudlak syndrome is a genetic condition that affects multiple body systems. It is characterised by a type of albinism called oculocutaneous albinism (lack of melanin pigment in their skin, hair and eyes), vision problems, prolonged bleeding, and sometimes lung (pulmonary fibrosis) or bowel disease. There are currently 11 subtypes of Hermansky-Pudlak syndrome depending on the gene affected. The symptoms and severity of Hermansky-Pudlak syndrome vary widely between individuals. Both males and females are affected equally.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, delta storage pool disease, HPS, syndromic albinism, hepatopulmonary syndrome.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:79430 Hermansky-Pudlak syndrome

ICD-11: EC23.20 Oculocutaneous albinism

ORPHAcodes for different subtypes of Hermansky-Pudlak syndrome:

• ORPHA:664500 Hermansky-Pudlak syndrome 2 due to AP3B1 deficiency
• ORPHA:231512 Hermansky-Pudlak syndrome 3/5/6 due to BLOC-2 deficiency
• ORPHA:231500 Hermansky-Pudlak syndrome 1/4 due to BLOC-3 deficiency
• ORPHA:231531 Hermansky-Pudlak syndrome 7/8/9/11 due to BLOC-1 deficiency
• ORPHA:664511 Early-onset severe Hermansky-Pudlak syndrome 10 with hearing loss, due to AP3D1 deficiency

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Hermansky-Pudlak syndrome is caused by disease-causing genetic changes (variants) in one of 11 genes identified. These genes are HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S8, BLOC1S3, BLOC1S6, AP3D1, BLOC1S5 genes – responsible for HPS types 1 to 11 respectively.

It is suggested that these genes affect the function of lysosome-related organelles (special compartments inside our cells that carries out different functions such as to produce melanin, for blood clotting, surfactants for lung function, etc.)

Everyone has two copies of each gene. Hermansky-Pudlak syndrome is an autosomal recessive condition, which means that both copies of the affected genes must have the disease-causing genetic variants.

The genetic variant can be inherited or passed on to the next generation. People with the genetic variant in only one copy are unaffected, but will be a carrier and may pass on that variant to their children. If both parents are carriers (each have a copy of the disease-causing variant), there is a 25% chance the child will inherit both disease-causing variants and have Hermansky-Pudlak syndrome. More information on autosomal recessive inheritance pattern can be found at Centre for Genetics Education: Autosomal recessive inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the care of people with Hermansky-Pudlak syndrome may include general practitioners (GP), paediatricians, ophthalmologists, dermatologists, haematologists, pulmonologists, gastroenterologists, and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:
We are not aware of any rare disease organisations for Hermansky-Pudlak syndrome in Australia. If you are aware of any Australian organisations, please let us know via the Contribute page.

International Organisation:
Hermansky-Pudlak Syndrome Network (United States of America)
Website: https://hpsnetwork.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Hermansky-Pudlak syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Hermansky-Pudlak syndrome can be found at:

• healthdirect: Albinism
• Genetic and Rare Diseases (GARD) Information Center: Hermansky-Pudlak syndrome
• National Organization for Rare Disorders (NORD): Hermansky Pudlak Syndrome

GeneReviews®: Hermansky-Pudlak Syndrome
Online Mendelian Inheritance in Man, OMIM®: #203300 Hermansky-Pudlak syndrome 1; HPS1
Online Mendelian Inheritance in Man, OMIM®: #608233 Hermansky-Pudlak syndrome 2; HPS2
Online Mendelian Inheritance in Man, OMIM®: #614072 Hermansky-Pudlak syndrome 3; HPS3
Online Mendelian Inheritance in Man, OMIM®: #614073 Hermansky-Pudlak syndrome 4; HPS4
Online Mendelian Inheritance in Man, OMIM®: #614074 Hermansky-Pudlak syndrome 5; HPS5
Online Mendelian Inheritance in Man, OMIM®: #614075 Hermansky-Pudlak syndrome 6; HPS6
Online Mendelian Inheritance in Man, OMIM®: #614076 Hermansky-Pudlak syndrome 7; HPS7
Online Mendelian Inheritance in Man, OMIM®: #614077 Hermansky-Pudlak syndrome 8; HPS8
Online Mendelian Inheritance in Man, OMIM®: #614171 Hermansky-Pudlak syndrome 9; HPS9
Online Mendelian Inheritance in Man, OMIM®: #617050 Hermansky-Pudlak syndrome 10; HPS10
Online Mendelian Inheritance in Man, OMIM®: #619172 Hermansky-Pudlak syndrome 11; HPS11
Orphanet: Hermansky-Pudlak syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.