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amyotrophic lateral sclerosis type 11 (ALS11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 11

MONDO:0012945

Also known as:ALS11FIG4 amyotrophic lateral sclerosisamyotrophic lateral sclerosis 11

Overview

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.

GeneticsAutosomal dominant · FIG4 (chr 6)

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: Bulbar signs. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Skeletal muscle atrophy
Muscles

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.

FIG4 encodes FIG4 phosphoinositide 5-phosphatase (907 aa). Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Highest expression in Artery Tibial (25.0 TPM) and Brain Frontal Cortex BA9 (22.9 TPM).

Amyotrophic lateral sclerosis type 11 has limited evidence linking it to mutations in the FIG4 gene on chromosome 6.

FIG4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FIG4 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for amyotrophic lateral sclerosis type 11 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 11.

170 publications have been identified in PubMed for amyotrophic lateral sclerosis type 11. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	53	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612577

GARD

Genetic and Rare Diseases Info Center

GARD:10496

Questions for Your Care Team

→Should I pursue genetic testing for FIG4, 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 11

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 11

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