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Wilson disease

Synonyms
Hepatolenticular degeneration; Wilson's disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body. [from GeneReviews]

Available tests

138 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (138 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PWD, WC1, WD, WND, ATP7B
    Summary: ATPase copper transporting beta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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