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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Schindler disease type 1


Other Names for this Disease
  • Alpha-N-acetylgalactosaminidase deficiency type 1
  • Alpha-N-acetylgalactosaminidase deficiency, type 1
  • NAGA deficiency type 1
  • NAGA deficiency, type 1
  • Neuroaxonal dystrophy, Schindler type
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Overview

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 NAGA gene. The condition follows an autosomal recessive pattern of inheritance.[1] 
Last updated: 5/13/2015

References

  1. Schindler disease. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/schindler-disease. Accessed 5/13/2015.
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Basic Information

In Depth Information

  • 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.
Other Names for this Disease
  • Alpha-N-acetylgalactosaminidase deficiency type 1
  • Alpha-N-acetylgalactosaminidase deficiency, type 1
  • NAGA deficiency type 1
  • NAGA deficiency, type 1
  • Neuroaxonal dystrophy, Schindler type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.