GTR Home > Conditions/Phenotypes > Menkes kinky-hair syndrome

Summary

Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DSMAX, MK, MNK, SMAX3, ATP7A
    Summary: ATPase copper transporting alpha

Clinical features

Help

Show allHide all

Suggested reading

  • Link text is missing.
    Neonatal Diagnosis and Treatment of Menkes Disease

Practice guidelines

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center