hereditary spastic paraplegia 42

Summary
Synonym
  • SPG42
  • autosomal dominant spastic paraplegia 42
  • autosomal dominant spastic paraplegia type 42
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31.
Super Class
autosomal dominant 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
The Human Phenotype Ontology
Displaying entries 11 - 20 of 22 in total
HPO ID HPO Term
HP:0001761 Pes cavus
HP:0007340 Lower limb muscle weakness
HP:0002169 Clonus
HP:0100561 Spinal cord lesion
HP:0002921 Abnormal cerebrospinal fluid morphology
HP:0002064 Spastic gait
HP:0007020 Progressive spastic paraplegia
HP:0001258 Spastic paraplegia
HP:0002395 Lower limb hyperreflexia
HP:0000006 Autosomal dominant inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
9197 SLC33A1 solute carrier family 33 member 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