Wilson disease

Summary
Synonym
  • Cerebral pseudosclerosis
  • Westphal pseudosclerosis
  • Westphal-Strumpell syndrome
  • Wilson's disease
  • hepatolenticular degeneration
Definition
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Super Class
metal metabolism disorder
Disease Ontology
DOID:893
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
540 ATP7B ATPase copper transporting beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
25675 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P35670 Copper-transporting ATPase 2
Displaying 1 entry
UniProt ID Protein Name Source
P51639 3-hydroxy-3-methylglutaryl-coenzyme A reductase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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