Neuroaxonal dystrophy, infantile
Other Names for this Disease
- Infantile neuroaxonal dystrophy
- Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
- KARAK SYNDROME, INCLUDED
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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.
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- 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.