Hermansky-Pudlak syndrome due to AP-3 deficiency
Synonyms: Hermansky-Pudlak syndrome with neutropenia
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Hermansky-Pudlak syndrome due to AP-3 deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Hermansky-pudlak Syndrome Network
a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
Malachi Holdings PVT LTd
We assist the patients with LSD ( Goucher/ Pompe/Fabri), channel Government consultant clinicians for treatment. currently Sri Lankan Government is struggling with health budgets to continue the ongoing treatments for the patients
The Dynamite Foundation Inc
The Dynamite Foundation is on a mission to share love, hope, and joy with individuals impacted by Histiocytosis around the world
Histiocytosis Association
We are dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research leading to better treatments and a cure.
Histiocytosis Association
Phone: 856 589-6606 The Histiocytosis Association of America is dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research leading to better treatments and a cure. Outreach Initiatives These programs include educational brochures, networking directories, regional education meetings, newsletters, toll-free phone number, annual awareness campaign, online virtual community website, physician-linking network, and volunteer coalition. Fundraising Initiatives The goal of the Histiocytosis Association's Fundraising Program is to provide resources for the Association's research program, member support programs, administrative and fundraising costs through a cooperative effort of the Board of Trustees and Association staff with assistance from patients, families, physicians and friends of the Association. The HAA Community The Histiocytosis Association of America, a non-profit organization registered with the Federal Government, is dedicated to helping those dealing with the effects of rare histiocytic disorders by providing a variety of educational programs and emotional support services. There is no cost to become a member of the Histiocytosis Association of America. Membership is automatic at the time of initial contact and/or original request for information. Members are entered into the Association's database and coded according to his/her relationship with a histiocytosis patient. This coding system insures that members receive all pertinent and appropriate materials. Histiocytosis Association of America 332 North Broadway Pitman, New Jersey 08071 USA General Email: [email protected] Toll Free: 1 800-548-2758 In US and Canada only Phone: +1 856-589-6606 Fax: +1 856-589-6614 Jeffrey M. Toughill President Email: [email protected] Beth Anne Miller, MNM Chief Operating Officer Director of Development Email: [email protected] Charlotte Eastlack Finance Manager Email: [email protected] Jonna Dersch Web Development Manager Email: [email protected] ChristineToughill Special Events Manager Email: [email protected] Kathy Wisniewski Volunteer Program Manager Email: [email protected] Bryan Biello Fundraising Associate Email: [email protected] Gina Shim Administrative Assistant Email: [email protected] Katie Schopfer Community Outreach Associate Email: [email protected] c Suite 101 Pitman NJ 08071 8565896606 8565896614 8005482758 [email protected]
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Accessia Health
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Clinical Trials
For a list of clinical trials in this disease area, please click here.