Overview
Hermansky-Pudlak syndrome type 9 (HPS-9) is an extremely rare genetic disorder that belongs to a group of conditions known as Hermansky-Pudlak syndrome (HPS). This type is caused by changes (mutations) in the PLDN gene (also called BLOC1S6). Like other forms of HPS, it affects the way certain tiny storage compartments inside cells — called organelles — are formed and function. These compartments include melanosomes (which give color to skin, hair, and eyes) and dense granules in platelets (which help blood clot). People with HPS-9 typically have oculocutaneous albinism, meaning they have lighter-than-expected skin, hair, and eye color. They also tend to have vision problems, including reduced sharpness of vision, sensitivity to light, and involuntary eye movements (nystagmus). Because their platelets do not work properly, they may bruise easily and experience prolonged bleeding after injuries, dental work, or surgery. HPS-9 is one of the rarest subtypes of Hermansky-Pudlak syndrome, and very few cases have been described in the medical literature. Because of this, the full range of possible complications — such as lung fibrosis or immune problems seen in some other HPS types — is not yet completely understood for this specific subtype. Treatment is mainly supportive and focuses on managing bleeding episodes, protecting the skin and eyes from sun damage, and monitoring for any additional complications. There is currently no cure for HPS-9, and management requires a team of specialists working together.
Also known as:
Key symptoms:
Lighter than expected skin colorLighter than expected hair colorLight-colored eyesReduced vision or poor eyesightInvoluntary back-and-forth eye movements (nystagmus)Sensitivity to bright lightEasy bruisingProlonged bleeding after cuts or surgeryNosebleeds that are hard to stopHeavy or prolonged menstrual bleeding in womenCrossed eyes or misaligned eyes (strabismus)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hermansky-Pudlak syndrome type 9.
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Specialists
View all specialists →No specialists are currently listed for Hermansky-Pudlak syndrome type 9.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hermansky-Pudlak syndrome type 9.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific complications should we watch for with HPS type 9 compared to other HPS types?,Should we have a bleeding management plan in place, and what should it include?,How often should my child have eye exams and lung function tests?,Are there any medications or over-the-counter drugs we should avoid because of the bleeding risk?,What school or workplace accommodations would you recommend for the vision problems?,Is genetic counseling recommended for other family members?,Are there any clinical trials or research studies we could participate in?
Common questions about Hermansky-Pudlak syndrome type 9
What is Hermansky-Pudlak syndrome type 9?
Hermansky-Pudlak syndrome type 9 (HPS-9) is an extremely rare genetic disorder that belongs to a group of conditions known as Hermansky-Pudlak syndrome (HPS). This type is caused by changes (mutations) in the PLDN gene (also called BLOC1S6). Like other forms of HPS, it affects the way certain tiny storage compartments inside cells — called organelles — are formed and function. These compartments include melanosomes (which give color to skin, hair, and eyes) and dense granules in platelets (which help blood clot). People with HPS-9 typically have oculocutaneous albinism, meaning they have ligh
How is Hermansky-Pudlak syndrome type 9 inherited?
Hermansky-Pudlak syndrome type 9 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hermansky-Pudlak syndrome type 9 typically begin?
Typical onset of Hermansky-Pudlak syndrome type 9 is infantile. Age of onset can vary across affected individuals.