frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Summary
Synonym
  • ALS14
  • amyotrophic lateral sclerosis 14
  • amyotrophic lateral sclerosis type 14
  • amyotrophic lateral sclerosis, with or without frontotemporal dementia
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060205
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7415 VCP valosin containing protein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 78 in total
HPO ID HPO Term
HP:0007373 Motor neuron atrophy
HP:0002878 Respiratory failure
HP:0009027 Foot dorsiflexor weakness
HP:0003470 Paralysis
HP:0012531 Pain
HP:0007340 Lower limb muscle weakness
HP:0002795 Abnormal respiratory system physiology
HP:0008955 Progressive distal muscular atrophy
HP:0003394 Muscle spasm
HP:0012473 Tongue atrophy
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