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Diseases

Genetic and Rare Diseases Information Center (GARD)

Menkes disease


Other Names for this Disease
  • Menkes syndrome
  • Steely hair disease
  • Menkea syndrome
  • Kinky hair disease
  • Copper transport disease
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Overview

Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infancy. Occipital horn syndrome is one of the less severe forms of Menkes syndrome that begins in early to middle childhood. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may slightly improve the prognosis in some affected children.[1][2]
Last updated: 12/2/2015

References

  1. Menkes syndrome. Genetics Home Reference (GHR). March 2009; http://ghr.nlm.nih.gov/condition/menkes-syndrome. Accessed 12/2/2015.
  2. Kaler SG. Genetics of Menkes Kinky Hair Disease. Medscape Reference. September 8, 2015; http://emedicine.medscape.com/article/946985-overview.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Genetics of Menkes Kinky Hair Disease
    Menkes Disease (Neurology)
    Dermatologic Manifestations of Menkes Kinky Hair Disease
  • 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.
  • 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 Menkes disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Menkes syndrome
  • Steely hair disease
  • Menkea syndrome
  • Kinky hair disease
  • Copper transport disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.