spinal muscular atrophy

Summary
Definition
A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
Super Class
motor neuron disease
External Links
Disease Ontology
DOID:12377
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying entries 11 - 20 of 23 in total
Gene ID Gene Symbol Description Source
2523 FUT1 fucosyltransferase 1 (H blood group)
2531 KDSR 3-ketodihydrosphingosine reductase
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2760 GM2A ganglioside GM2 activator
3073 HEXA hexosaminidase subunit alpha
3074 HEXB hexosaminidase subunit beta
3339 HSPG2 heparan sulfate proteoglycan 2
3958 LGALS3 galectin 3
5230 PGK1 phosphoglycerate kinase 1
5621 PRNP prion protein (Kanno blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
15212 Hexb hexosaminidase B
Displaying 1 entry
Gene ID Gene Symbol Description Source
294673 Hexb hexosaminidase subunit beta
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31808 Hexo2 Hexosaminidase 2
38528 Hexo1 Hexosaminidase 1
250735 fdl fused lobes
Displaying 1 entry
Gene ID Gene Symbol Description Source
180533 hex-1 Beta-hexosaminidase A
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q15485 Ficolin-2
Q9H9P2 Chondrolectin

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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