hereditary spastic paraplegia 84

Summary
Synonym
  • SPG84
  • spastic paraplegia 84 autosomal recessive
Definition
A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
Super Class
autosomal recessive disease hereditary spastic paraplegia
External Links
Disease Ontology
DOID:0112347
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5297 PI4KA phosphatidylinositol 4-kinase alpha
The Human Phenotype Ontology
Displaying entries 1 - 10 of 23 in total
HPO ID HPO Term
HP:0002355 Difficulty walking
HP:0006466 Ankle flexion contracture
HP:0001258 Spastic paraplegia
HP:0011448 Ankle clonus
HP:0003487 Babinski sign
HP:0000012 Urinary urgency
HP:0008969 Leg muscle stiffness
HP:0002495 Impaired vibratory sensation
HP:0100543 Cognitive impairment
HP:0001347 Hyperreflexia
Displaying 1 entry
Gene ID Gene Symbol Description
5297 PI4KA phosphatidylinositol 4-kinase alpha

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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