Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

amyotrophic lateral sclerosis type 6 (ALS6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 6

MONDO:0011951

Also known as:ALS6FUS amyotrophic lateral sclerosisamyotrophic lateral sclerosis 6, with or without frontotemporal dementia

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.

GeneticsAutosomal dominant · FUS (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hyporeflexia, Difficulty walking (gait disturbance), Fasciculations, and Amyotrophic lateral sclerosis and 2 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hyporeflexia, Difficulty walking (gait disturbance), Fasciculations

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FUS encodes FUS RNA binding protein (526 aa). DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response. Highest expression in Ovary (193.2 TPM) and Brain Cerebellar Hemisphere (173.6 TPM).

Amyotrophic lateral sclerosis type 6 is caused by mutations in the FUS gene on chromosome 16.

The FUS protein participates in FGFR3(23-760)-BAIAP2L1(18-522) fusion, p-6Y-FGFR2(22-767)-CCAR(51-923) fusion, and p-6Y-FGFR2(22-767)-CASP7(1-303) fusion pathways.

FUS is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 17.4.

Diagnosis

Genetic testing for FUS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 6 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for amyotrophic lateral sclerosis type 6.

227 publications have been identified in PubMed for amyotrophic lateral sclerosis type 6. Research spans Basic Science / Preclinical (47%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Laboratory research	107	47%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608030

GARD

Genetic and Rare Diseases Info Center

GARD:9874

Questions for Your Care Team

→Should I pursue genetic testing for FUS, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

amyotrophic lateral sclerosis type 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

amyotrophic lateral sclerosis type 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications