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 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
3897 L1CAM L1 cell adhesion molecule
4099 MAG myelin associated glycoprotein
5833 PCYT2 phosphate cytidylyltransferase 2, ethanolamine
8398 PLA2G6 phospholipase A2 group VI
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9197 SLC33A1 solute carrier family 33 member 1
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
10908 PNPLA6 patatin like phospholipase domain containing 6
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 31 - 40 of 41 in total
HPO ID HPO Term
HP:0002064 Spastic gait
HP:0003593 Infantile onset
HP:0001258 Spastic paraplegia
HP:0008944 Distal lower limb amyotrophy
HP:0000639 Nystagmus
HP:0002495 Impaired vibratory sensation
HP:0100020 Posterior capsular cataract
HP:0002355 Difficulty walking
HP:0006986 Upper limb spasticity
HP:0001251 Ataxia
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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