frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Summary
Synonym
  • FTDALS3
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.
Super Class
amyotrophic lateral sclerosis
External Links
Disease Ontology
DOID:0110068
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8878 SQSTM1 sequestosome 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18412 Sqstm1 sequestosome 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 91 in total
HPO ID HPO Term
HP:0001260 Dysarthria
HP:0002380 Fasciculations
HP:0000713 Agitation
HP:0002094 Dyspnea
HP:0000708 Atypical behavior
HP:0002015 Dysphagia
HP:0002180 Neurodegeneration
HP:0000739 Anxiety
HP:0000217 Xerostomia
HP:0001347 Hyperreflexia
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: August 19, 2024