Beta-mannosidosis
Synonyms: Beta-mannosidase deficiency
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss but that can manifest a wide phenotypic heterogeneity.
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 2023.
Newly diagnosed with
Beta-mannosidosis?
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Advocacy Organizations
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.
International Society for Mannosidosis and Related Diseases
ISMRD is an internationally focused not-for-profit organization whose mission is to advocate for families and patients affected by, Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Sialidosis (Mucolipidosis I), Mucolipidosis II, II/III, III alpha/beta, Mucolipidosis III Gamma, and Schindler Disease.
International Society for Mannosidosis and Related Diseases
ISMRD is an internationally focused not-for-profit organization whose mission is to advocate for families and patients affected by, Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Sialidosis (Mucolipidosis I), Mucolipidosis II, II/III, III alpha/beta, Mucolipidosis III Gamma, and Schindler Disease.
Pompe Alliance
To provide supportive services, education and information to patients, caregivers, medical professionals and community stakeholders
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.
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.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Lysosomal Storage Disorders Society – Pakistan
Our mission is to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public.
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.
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.
Hypertrophic Cardiomyopathy Association
Providing 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.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.