lipid storage disease

Summary
Synonym
  • Lipoid storage diseas
  • inborn lipid storage disorder
  • lipoidosis
Definition
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Super Class
lysosomal storage disease
Disease Ontology
DOID:9455
Mondo Disease Ontology
MeSH
UMLS
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
5660 PSAP prosaposin
6720 SREBF1 sterol regulatory element binding transcription factor 1
6721 SREBF2 sterol regulatory element binding transcription factor 2
84889 SLC7A3 solute carrier family 7 member 3
768239 PSAPL1 prosaposin like 1
Displaying all 5 entries
Gene ID Gene Symbol Description Source
11989 Slc7a3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
19156 Psap prosaposin
20787 Srebf1 sterol regulatory element binding transcription factor 1
20788 Srebf2 sterol regulatory element binding factor 2
76943 Psapl1 prosaposin-like 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25524 Psap prosaposin
29485 Slc7a3 solute carrier family 7 member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850943 ARV1 sterol homeostasis protein ARV1
852803 HNM1 Hnm1p

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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: December 9, 2024