amyotrophic lateral sclerosis type 18

Summary
Synonym
  • ALS18
  • amyotrophic lateral sclerosis 18
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060209
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5216 PFN1 profilin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18643 Pfn1 profilin 1
The Human Phenotype Ontology
Displaying entries 31 - 36 of 36 in total
HPO ID HPO Term
HP:0004326 Cachexia
HP:0100543 Cognitive impairment
HP:0003484 Upper limb muscle weakness
HP:0009067 Progressive spinal muscular atrophy
HP:0003202 Skeletal muscle atrophy
HP:0007354 Amyotrophic lateral sclerosis
Displaying all 6 entries
Gene ID Gene Symbol Description
5444 PON1 paraoxonase 1
5445 PON2 paraoxonase 2
5446 PON3 paraoxonase 3
55830 GLT8D1 glycosyltransferase 8 domain containing 1
7415 VCP valosin containing protein
9896 FIG4 FIG4 phosphoinositide 5-phosphatase

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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