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 51 - 60 of 78 in total
HPO ID HPO Term
HP:0001300 Parkinsonism
HP:0007190 Neuronal loss in the cerebral cortex
HP:0002127 Abnormal upper motor neuron morphology
HP:0000741 Apathy
HP:0002366 Abnormal lower motor neuron morphology
HP:0008619 Bilateral sensorineural hearing impairment
HP:0002171 Gliosis
HP:0001265 Hyporeflexia
HP:0002385 Paraparesis
HP:0000734 Disinhibition
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