Gaucher disease type 2
Synonyms: Acute neuronopathic Gaucher disease | Infantile cerebral Gaucher disease
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem associated with an organomegaly and generally leading to death before the age of 2.
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
Gaucher disease 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
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.
Gaucher Community Alliance
The mission of the Gaucher Community Alliance is to help those affected with all types of Gaucher disease live their fullest lives possible. We support patients and their families through peer-to-peer support and education, advocacy, patient and family resources and networking. We hope to ensure that no families shall face this disease alone.
National Gaucher Foundation of Canada
To improve the health and wellbeing of Canadian Gaucher patients through education, advocacy, and support of research.
International Gaucher Alliance
Be the global voice for Gaucher patients & their families; Empower & support its members & the wider Gaucher community to improve patients’ quality of life; Advocate & be a catalyst for change & improvement for patients; Ensure the Gaucher research agenda is focused on unmet needs; Work collectively with the global Gaucher community & other stakeholders to address challenges faced by patients.
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.
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.
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.
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.
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.
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.
Breathe Support Network
MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources
Genetic Epilepsy Team Australia
Collaboration of research and care
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Clinical Trials
For a list of clinical trials in this disease area, please click here.