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 11 - 20 of 26 in total
Gene ID Gene Symbol Description Source
2588 GALNS galactosamine (N-acetyl)-6-sulfatase
2752 GLUL glutamate-ammonia ligase
2876 GPX1 glutathione peroxidase 1
3554 IL1R1 interleukin 1 receptor type 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
5621 PRNP prion protein (Kanno blood group)
6609 SMPD1 sphingomyelin phosphodiesterase 1
6718 AKR1D1 aldo-keto reductase family 1 member D1
7412 VCAM1 vascular cell adhesion molecule 1
8443 GNPAT glyceronephosphate O-acyltransferase
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