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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Refsum disease


Other Names for this Disease
  • Disorder of cornification 11 (phytanic acid type)
  • Doc 11 (phytanic acid type)
  • Herditary sensory and motor neuropathy type 4
  • Heredopathia atactica polyneuritiformis
  • HMSN 4
More Names
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Overview


Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 11/9/2011

References

  1. Refsum disease. Genetics Home Reference. January 2010; http://ghr.nlm.nih.gov/condition/refsum-disease. Accessed 11/9/2011.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Refsum disease. Click on the link to view a sample search on this topic.