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 1 - 10 of 40 in total
HPO ID HPO Term
HP:0002650 Scoliosis
HP:0001317 Abnormal cerebellum morphology
HP:0011448 Ankle clonus
HP:0000639 Nystagmus
HP:0006986 Upper limb spasticity
HP:0002070 Limb ataxia
HP:0000407 Sensorineural hearing impairment
HP:0003487 Babinski sign
HP:0002015 Dysphagia
HP:0007340 Lower limb muscle weakness
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