sea-blue histiocytosis

Summary
Synonym
  • Sea-blue histiocyte syndrome
Definition
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.
Super Class
sphingolipidosis
External Links
Disease Ontology
DOID:4423
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
6609 SMPD1 sphingomyelin phosphodiesterase 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P16278 Beta-galactosidase
P17405 Sphingomyelin phosphodiesterase

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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