neuronal ceroid lipofuscinosis

Summary
Synonym
  • hereditary ceroid lipofuscinosis
Super Class
lipid storage disease
Disease Ontology
DOID:14503
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
1201 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin
1509 CTSD cathepsin D
5538 PPT1 palmitoyl-protein thioesterase 1
6648 SOD2 superoxide dismutase 2
9374 PPT2 palmitoyl-protein thioesterase 2
23400 ATP13A2 ATPase cation transporting 13A2
79572 ATP13A3 ATPase 13A3
83985 SPNS1 SPNS lysolipid transporter 1, lysophospholipid
124976 SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate
344905 ATP13A5 ATPase 13A5
Displaying all 8 entries
Gene ID Gene Symbol Description Source
12752 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin
13033 Ctsd cathepsin D
19063 Ppt1 palmitoyl-protein thioesterase 1
20656 Sod2 superoxide dismutase 2, mitochondrial
54397 Ppt2 palmitoyl-protein thioesterase 2
74772 Atp13a2 ATPase type 13A2
224088 Atp13a3 ATPase type 13A3
268878 Atp13a5 ATPase type 13A5
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24787 Sod2 superoxide dismutase 2
29411 Ppt1 palmitoyl-protein thioesterase 1
54398 Ppt2 palmitoyl-protein thioesterase 2
171293 Ctsd cathepsin D
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31805 Ppt1 Palmitoyl-protein thioesterase 1
34564 Ppt2 Palmitoyl-protein Thioesterase 2
45380 spin spinster
Displaying 1 entry
Gene ID Gene Symbol Description Source
336746 napsa napsin A aspartic peptidase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
181444 asp-4 Aspartic protease 4
191744 ppt-1 Palmitoyl-protein thioesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855949 PEP4 proteinase A

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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