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 21 - 26 of 26 in total
Gene ID Gene Symbol Description Source
26033 ATRNL1 attractin like 1
26503 SLC17A5 solute carrier family 17 member 5
64116 SLC39A8 solute carrier family 39 member 8
80339 PNPLA3 patatin like phospholipase domain containing 3
84317 CCDC115 coiled-coil domain containing 115
148738 HJV hemojuvelin BMP co-receptor
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