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

Menkes kinky-hair syndrome

Synonyms
Copper transport disease; Kinky hair disease; Menkes Disease
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. [from OMIM]

Available tests

106 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (106 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

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

Clinical resources

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Molecular resources

Consumer resources

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