hereditary spastic paraplegia 5A

Summary
Synonym
  • SPG5A
  • autosomal recessive spastic paraplegia 5A
  • autosomal recessive spastic paraplegia type 5A
Definition
A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.
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
The Human Phenotype Ontology
Displaying entries 31 - 40 of 40 in total
HPO ID HPO Term
HP:0002166 Impaired vibration sensation in the lower limbs
HP:0000648 Optic atrophy
HP:0003621 Juvenile onset
HP:0000007 Autosomal recessive inheritance
HP:0011462 Young adult onset
HP:0002064 Spastic gait
HP:0003596 Middle age onset
HP:0100543 Cognitive impairment
HP:0002174 Postural tremor
HP:0003676 Progressive
Displaying 1 entry
Gene ID Gene Symbol Description
9420 CYP7B1 cytochrome P450 family 7 subfamily B 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