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neuronopathy, distal hereditary motor, autosomal dominant 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal dominant 15

MONDO:0976226

Overview

GeneticsAutosomal dominant · BAG3 (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: Decreased Achilles reflex; and very common findings: EMG: neuropathic changes, Distal lower limb muscle weakness, Absent Achilles reflex, and Distal lower limb amyotrophy. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Muscle spasm, Fasciculations, Muscle fiber atrophy

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.

BAG3 encodes BAG cochaperone 3 (575 aa). Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. Highest expression in Muscle Skeletal (370.4 TPM) and Artery Aorta (139.2 TPM).

Neuronopathy, distal hereditary motor, autosomal dominant 15 is associated with mutations in the BAG3 gene on chromosome 10.

The BAG3 protein participates in CREB3L4 translocates from the cytosol to the nucleus pathway.

BAG3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for BAG3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 8 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621094

Questions for Your Care Team

→Should I pursue genetic testing for BAG3, 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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neuronopathy, distal hereditary motor, autosomal dominant 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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