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amyotrophic lateral sclerosis type 16 (ALS16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 16

MONDO:0013715

Also known as:ALS16SIGMAR1 amyotrophic lateral sclerosisamyotrophic lateral sclerosis 16

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.

GeneticsAutosomal recessive · SIGMAR1 (chr 9)

OnsetCHILDHOOD, JUVENILE, ADULT

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: Lower limb muscle weakness, Lower limb spasticity, Weakness of the intrinsic hand muscles, and Overactive reflexes (hyperreflexia); and common findings: Loss of ambulation. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Lower limb muscle weakness, Weakness of the intrinsic hand muscles, Loss of ambulation

Genetic Landscape

SIGMAR1 function has not been fully characterized.

Amyotrophic lateral sclerosis type 16 is associated with mutations in the SIGMAR1 gene on chromosome 9.

Diagnosis

Genetic testing for SIGMAR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 common feature.

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 16.

166 publications have been identified in PubMed for amyotrophic lateral sclerosis type 16. Research spans Basic Science / Preclinical (34%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	56	34%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614373

GARD

Genetic and Rare Diseases Info Center

GARD:15794

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 16

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

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amyotrophic lateral sclerosis type 16

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

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