spinocerebellar ataxia type 38

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050985
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
60481 ELOVL5 ELOVL fatty acid elongase 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NYP7 Very long chain fatty acid elongase 5
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0001260 Dysarthria
HP:0002355 Difficulty walking
HP:0000639 Nystagmus
HP:0003474 Somatic sensory dysfunction
HP:0001337 Tremor
HP:0000514 Slow saccadic eye movements
HP:0002460 Distal muscle weakness
HP:0001272 Cerebellar atrophy
HP:0009830 Peripheral neuropathy
HP:0000708 Atypical behavior
Displaying 1 entry
Gene ID Gene Symbol Description
60481 ELOVL5 ELOVL fatty acid elongase 5

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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