hereditary spastic paraplegia 75

Summary
Synonym
  • SPG75
  • autosomal recessive spastic paraplegia 75
  • autosomal recessive spastic paraplegia type 75
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 38 in total
HPO ID HPO Term
HP:0001265 Hyporeflexia
HP:0001249 Intellectual disability
HP:0003487 Babinski sign
HP:0000540 Hypermetropia
HP:0001310 Dysmetria
HP:0008944 Distal lower limb amyotrophy
HP:0001258 Spastic paraplegia
HP:0000483 Astigmatism
HP:0001290 Generalized hypotonia
HP:0007256 Abnormal pyramidal sign
Displaying 1 entry
Gene ID Gene Symbol Description
4099 MAG myelin associated glycoprotein

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Last updated: August 19, 2024