hereditary spastic paraplegia 56

Summary
Synonym
  • SPG56
  • autosomal recessive spastic paraplegia 56
  • autosomal recessive spastic paraplegia type 56
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
113612 CYP2U1 cytochrome P450 family 2 subfamily U member 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0002395 Lower limb hyperreflexia
HP:0001332 Dystonia
HP:0003487 Babinski sign
HP:0001258 Spastic paraplegia
HP:0002500 Abnormal cerebral white matter morphology
HP:0002079 Hypoplasia of the corpus callosum
HP:0001249 Intellectual disability
HP:0002317 Unsteady gait
HP:0003477 Peripheral axonal neuropathy
HP:0001263 Global developmental delay
Displaying 1 entry
Gene ID Gene Symbol Description
113612 CYP2U1 cytochrome P450 family 2 subfamily U 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