amyotrophic lateral sclerosis type 6

Summary
Synonym
  • ALS6
  • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
  • autosomal recessive amyotrophic lateral sclerosis 6
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060198
Mondo Disease Ontology
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2521 FUS FUS RNA binding protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
233908 Fus fused in sarcoma
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P35637 RNA-binding protein FUS
Displaying 1 entry
UniProt ID Protein Name Source
P56959 RNA-binding protein FUS
The Human Phenotype Ontology
Displaying entries 1 - 10 of 63 in total
HPO ID HPO Term
HP:0000739 Anxiety
HP:0002017 Nausea and vomiting
HP:0000712 Emotional lability
HP:0001260 Dysarthria
HP:0000708 Atypical behavior
HP:0002015 Dysphagia
HP:0000713 Agitation
HP:0002094 Dyspnea
HP:0001257 Spasticity
HP:0000217 Xerostomia
Displaying all 6 entries
Gene ID Gene Symbol Description
7415 VCP valosin containing protein
5444 PON1 paraoxonase 1
5445 PON2 paraoxonase 2
5446 PON3 paraoxonase 3
55830 GLT8D1 glycosyltransferase 8 domain containing 1
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: April 7, 2025