amyotrophic lateral sclerosis type 4

Summary
Synonym
  • ALS4
  • amyotrophic lateral sclerosis 4
  • amyotrophic lateral sclerosis 4, juvenile
  • dHMN with upper motor neuron signs
  • distal hereditary motor neuropathy with pyramidal features
  • distal hereditary motor neuropathy with upper motor neuron signs
Definition
An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060196
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23064 SETX senataxin
Displaying 1 entry
Gene ID Gene Symbol Description Source
269254 Setx senataxin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q7Z333 Probable helicase senataxin
Displaying 1 entry
UniProt ID Protein Name Source
A2AKX3 Probable helicase senataxin

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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: April 7, 2025