amyotrophic lateral sclerosis type 5

Summary
Synonym
  • ALS5
  • amyotrophic lateral sclerosis 5
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060197
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
80208 SPG11 SPG11 vesicle trafficking associated, spatacsin
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000020 Urinary incontinence
HP:0000252 Microcephaly
HP:0000605 Supranuclear gaze palsy
HP:0000639 Nystagmus
HP:0000708 Atypical behavior
HP:0001251 Ataxia
HP:0001263 Global developmental delay
HP:0001264 Spastic diplegia
HP:0001276 Hypertonia
HP:0001300 Parkinsonism
Displaying 1 entry
Gene ID Gene Symbol Description
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 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: December 9, 2024