Niemann-Pick disease type C
A rare lysosomal lipid storage disease characterized by variable clinical signs depending on the age of onset such as prolonged unexplained neonatal jaundice or cholestasis isolated unexplained splenomegaly and progressive often severe neurological symptoms such as cognitive decline cerebellar ataxia vertical supranuclear gaze palsy (VSPG) dysarthria dysphagia dystonia seizures gelastic cataplexy and psychiatric disorders.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Niemann-Pick disease type C?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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.
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
To fund research for treatment and/or a cure for CASK Gene Disorder
For a list of clinical trials in this disease area, please click here.