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
External Links
Disease Ontology
DOID:893
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 26 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
48 ACO1 aconitase 1
250 ALPP alkaline phosphatase, placental
308 ANXA5 annexin A5
410 ARSA arylsulfatase A
811 CALR calreticulin
847 CAT catalase
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
1636 ACE angiotensin I converting enzyme
2539 G6PD glucose-6-phosphate dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
20597 Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174131 asm-1 Sphingomyelin phosphodiesterase 1
176879 asm-3 Putative sphingomyelin phosphodiesterase asm-3;Sphingomyelin phosphodiesterase
181323 asm-2 Sphingomyelin phosphodiesterase 2

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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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Last updated: August 19, 2024