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amyotrophic lateral sclerosis type 21 (ALS21) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 21

MONDO:0011632

Also known as:ALS21MATR3 amyotrophic lateral sclerosisamyotrophic lateral sclerosis caused by mutation in MATR3

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.

GeneticsAutosomal dominant · MATR3 (chr 5)

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: Distal muscle weakness and Increased variability in muscle fiber diameter; and very common findings: Hand muscle weakness, Rimmed vacuoles, and Distal lower limb muscle weakness. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Hand muscle weakness, Distal muscle weakness, Shoulder girdle muscle weakness

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.

MATR3 encodes matrin 3 (847 aa). May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Highest expression in Brain Cerebellar Hemisphere (26.4 TPM) and Brain Cerebellum (18.3 TPM).

Amyotrophic lateral sclerosis type 21 is associated with mutations in the MATR3 gene on chromosome 5.

MATR3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MATR3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 21 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 5 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 21.

135 publications have been identified in PubMed for amyotrophic lateral sclerosis type 21. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	42	39%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606070

GARD

Genetic and Rare Diseases Info Center

GARD:18619

Questions for Your Care Team

→Should I pursue genetic testing for MATR3, 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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Kisho

amyotrophic lateral sclerosis type 21

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

Latest News & Developments

Proposed Data Collection Submitted for Public Comment and Recommendations

Living Fearlessly After An ALS Diagnosis

amyotrophic lateral sclerosis type 21

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

Latest News & Developments

Proposed Data Collection Submitted for Public Comment and Recommendations

Living Fearlessly After An ALS Diagnosis