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amyotrophic lateral sclerosis type 8 (ALS8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 8

MONDO:0012077

Also known as:ALS8VAPB amyotrophic lateral sclerosisamyotrophic lateral sclerosis 8

Overview

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

GeneticsAutosomal dominant · VAPB (chr 20)

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 always present findings: Postural tremor; and very common findings: Muscle spasm, Fasciculations, and Proximal muscle weakness. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Progressive muscle weakness, Skeletal muscle atrophy, Muscle spasm

Genetic Landscape

VAPB function has not been fully characterized.

Amyotrophic lateral sclerosis type 8 is caused by mutations in the VAPB gene on chromosome 20.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 7 common features.

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 8.

30 publications have been identified in PubMed for amyotrophic lateral sclerosis type 8. Research spans Basic Science / Preclinical (70%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	21	70%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608627

GARD

Genetic and Rare Diseases Info Center

GARD:10499

Questions for Your Care Team

→Should I pursue genetic testing for VAPB, 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?

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amyotrophic lateral sclerosis type 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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