Synonyms: Hunter syndrome | Iduronate 2-sulfatase deficiency | MPS2 | MPSII | Mucopolysaccharidosis type II
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features short stature cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
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 October 2024
Newly diagnosed with
Mucopolysaccharidosis type 2?
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
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.
Child And Youth Care
To ensure every rare disease patient has access to quality and affordable care, treatment services in order to reduce morbidity and mortality.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Emory Lysosomal Storage Disease Center
The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Hypertrophic Cardiomyopathy Association
The HCMA was founded in 1996 as a 501c3 nonprofit organization. We provide support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy while supporting research and fostering the development of treatments.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
MPS Society
The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.
MPS Superhero Foundation
The MPS SuperHero Foundation is a non-profit organization dedicated to raising awareness and supporting efforts to find a cure for Mucopolysaccharidosis (MPS), In addition to raising awareness, we are committed to educating healthcare providers to enhance their understanding of MPS, we also provide emotional and financial support to families affected by MPS.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Moonshots for Unicorns
Curing single-gene disorders
My Rare Universe Foundation
Help rare disease patients that can’t afford the cost of genetic testing in order to find a diagnosis. Educate rare disease patients on how to cope with their condition by promoting personal experiences and testimonies through social media, website, books, movies, among others. Provide a platform for available resources, patient registries and support. Promote all information related to medica
Orphan Disease Center
The Penn Medicine Orphan Disease Center (ODC) will host the 11th Annual Million Dollar Bike Ride on Saturday, June 8, 2024 to raise money for rare disease research. In ten years, the MDBR’s 30+ teams have raised over $20 million to fund research grants on the diseases they represent. The ODC ensures that 100% of the funds received goes towards these pilot grants.
Pompe Alliance
To provide supportive services, education and information to patients, caregivers, medical professionals and community stakeholders.
Project Alive
Project Alive exists to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators. The organization funds promising curative research, assists researchers and industry with designing research studies for our community, and advocates for the most effective and efficient system of clinical research, evaluation, and approval. Through its innovative campaigns and grassroots efforts, Project Alive has made significant advances in public awareness about Hunter Syndrome and its symptoms, the need for early diagnosis, and available treatments and clinical trials.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.