Neuroaxonal dystrophy, infantile
Other Names for this Disease
- Seitelberger disease
- Infantile neuroaxonal dystrophy
- Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
- Neurodegeneration with brain iron accumulation 2B
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lipid storage disorder that primarily affects the nervous system. It has two forms, a classical form and an atypical form. It is usually diagnosed in infancy or early childhood and is characterized by a progressive loss of vision, and physical and mental skills. Most cases are caused by mutations in the PLA2G6 gene. There is evidence that at least one other gene may be involved. Neuroaxonal dystrophy, infantile is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.Neuroaxonal dystrophy, infantile is a type of
Last updated: 7/15/2009
- McGovern MM. Lipid storage disorders. eMedicine. 2009; http://emedicine.medscape.com/article/945966-overview. Accessed 7/14/2009.
- Infantile neuroaxonal dystrophy. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=infantileneuroaxonaldystrophy. Accessed 7/14/2009.
- Gregory A, Hayflick SJ. Infantile neuroaxonal dystrophy. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=inad. Accessed 7/14/2009.
- Genetics Home Reference (GHR) contains information on Neuroaxonal dystrophy, infantile. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The University College London Institute of Child Health has an information page on neuroaxonal dystrophy, infantile. Click on the link to view the information page.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
The Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM)
- 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 Neuroaxonal dystrophy, infantile. Click on the link to view a sample search on this topic.