hereditary spastic paraplegia 26

Summary
Synonym
  • GM2 synthase deficiency
  • SPG26
  • autosomal recessive spastic paraplegia 26
  • autosomal recessive spastic paraplegia type 26
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
51302 CYP39A1 cytochrome P450 family 39 subfamily A member 1
57704 GBA2 glucosylceramidase beta 2
84188 FAR1 fatty acyl-CoA reductase 1
85465 SELENOI selenoprotein I
113612 CYP2U1 cytochrome P450 family 2 subfamily U member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14421 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
64828 B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
558684 b4galnt1a beta-1,4-N-acetyl-galactosaminyl transferase 1a
793635 b4galnt1b beta-1,4-N-acetyl-galactosaminyl transferase 1b
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
379299 b4galnt1.L beta-1,4-N-acetyl-galactosaminyl transferase 1 L homeolog Xenopus laevis (African clawed frog)
100145208 b4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 Xenopus tropicalis (tropical clawed frog)
108709867 b4galnt1.S beta-1,4-N-acetyl-galactosaminyl transferase 1 S homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 41 in total
HPO ID HPO Term
HP:0001332 Dystonia
HP:0006938 Impaired vibration sensation at ankles
HP:0001265 Hyporeflexia
HP:0100660 Dyskinesia
HP:0002120 Cerebral cortical atrophy
HP:0000518 Cataract
HP:0003202 Skeletal muscle atrophy
HP:0001317 Abnormal cerebellum morphology
HP:0007141 Sensorimotor neuropathy
HP:0001761 Pes cavus
Displaying 1 entry
Gene ID Gene Symbol Description
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1

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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