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frontotemporal dementia and/or amyotrophic lateral sclerosis 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontotemporal dementia and/or amyotrophic lateral sclerosis 3

MONDO:0014640

Also known as:FTDALS3frontotemporal dementia and/or amyotrophic lateral sclerosis type 3

Overview

An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.

GeneticsAutosomal dominant · SQSTM1 (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: Skeletal muscle atrophy, Hyporeflexia, Abnormal lower motor neuron morphology, and Mutism and 13 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Hyporeflexia, Mutism, Difficulty swallowing (dysphagia)

Genetic Landscape

SQSTM1 function has not been fully characterized.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 has been associated with mutations in the SQSTM1 gene on chromosome 5.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SQSTM1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for frontotemporal dementia and/or amyotrophic lateral sclerosis 3 has been reported in the published literature.

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 frontotemporal dementia and/or amyotrophic lateral sclerosis 3.

214 publications have been identified in PubMed for frontotemporal dementia and/or amyotrophic lateral sclerosis 3. Kisho has analyzed 164 by research type. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	65	40%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616437

GARD

Genetic and Rare Diseases Info Center

GARD:16113

Questions for Your Care Team

→Should I pursue genetic testing for SQSTM1, 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

frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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