Schindler disease type 1
Other Names for this Disease
- Neuroaxonal dystrophy, Schindler type
- Alpha-N-acetylgalactosaminidase deficiency, type 1
- NAGA deficiency, type 1
- Schindler disease type I
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NAGA gene. The condition follows an autosomal recessive pattern of inheritance.Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the
Last updated: 5/13/2015
- Schindler disease. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/schindler-disease. Accessed 5/13/2015.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Schindler disease type 1. Click on the link to view a sample search on this topic.