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amyotrophic lateral sclerosis type 23 (ALS23) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 23

MONDO:0027694

Also known as:ALS23amyotrophic lateral sclerosis 23

Overview

GeneticsAutosomal dominant · ANXA11 (chr 10)

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: Amyotrophic lateral sclerosis; and common findings: Difficulty swallowing (dysphagia). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Difficulty swallowing (dysphagia), Progressive loss of mental abilities (dementia)

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.

ANXA11 encodes annexin A11 (505 aa). Binds specifically to calcyclin in a calcium-dependent manner. Required for midbody formation and completion of the terminal phase of cytokinesis Highest expression in Artery Aorta (126.4 TPM) and Artery Tibial (113.4 TPM).

Amyotrophic lateral sclerosis type 23 is caused by mutations in the ANXA11 gene on chromosome 10.

ANXA11 is classified as a druggable target with score 6.5.

Diagnosis

Genetic testing for ANXA11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 23 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 23.

146 publications have been identified in PubMed for amyotrophic lateral sclerosis type 23. Research spans Basic Science / Preclinical (25%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Laboratory research	37	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617839

GARD

Genetic and Rare Diseases Info Center

GARD:16262

Questions for Your Care Team

→Should I pursue genetic testing for ANXA11, 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 23

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 23

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