Ganglio sphingolipid metabolism
Pathways in the Ganglio sphingolipid metabolism SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | Ganglio sphingolipid metabolism | WikiPathways | |
| 2 | Defective SLC33A1 causes spastic paraplegia 42 (SPG42) | Reactome |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | SLC33A1 | Solute Carrier Family 33 Member 1 | Protein Coding | 2 |
| 2 | B3GALT1 | Beta-1,3-Galactosyltransferase 1 | Protein Coding | 1 |
| 3 | B3GALT4 | Beta-1,3-Galactosyltransferase 4 | Protein Coding | 1 |
| 4 | ST3GAL2 | ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 2 | Protein Coding | 1 |
| 5 | ST8SIA3 | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 3 | Protein Coding | 1 |
| 6 | ST6GALNAC6 | ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 6 | Protein Coding | 1 |
| 7 | ST8SIA5 | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 5 | Protein Coding | 1 |
| 8 | FUT1 | Fucosyltransferase 1 (H Blood Group) | Protein Coding | 1 |
| 9 | A3GALT2 | Alpha 1,3-Galactosyltransferase 2 | Protein Coding | 1 |
| 10 | ST3GAL5 | ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 | Protein Coding | 1 |
| 11 | ST8SIA1 | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1 | Protein Coding | 1 |
| 12 | ST3GAL1 | ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1 | Protein Coding | 1 |
| 13 | B4GALNT1 | Beta-1,4-N-Acetyl-Galactosaminyltransferase 1 | Protein Coding | 1 |
Disorders associated with Ganglio sphingolipid metabolism SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Cataract | Direct | ||
| 2 | Hereditary spastic paraplegia | Direct | ||
| 3 | Sensorineural hearing loss | Direct | ||
| 4 | Spastic paraplegia 26, autosomal recessive | Enrichment | B4GALNT1 | 3.02 |
| 5 | Spastic paraplegia 42, autosomal dominant | Enrichment | SLC33A1 | 3.02 |
| 6 | Huppke-brendel syndrome | Enrichment | SLC33A1 | 3.02 |
| 7 | Salt and pepper developmental regression syndrome | Enrichment | ST3GAL5 | 2.72 |
| 8 | Bombay phenotype | Enrichment | FUT1 | 2.72 |
| 9 | Salt and pepper syndrome | Enrichment | ST3GAL5 | 2.72 |
| 10 | Hypothyroidism | Enrichment | SLC33A1 | 2.12 |
