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neuronopathy, distal hereditary motor, type 2C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, type 2C

MONDO:0013243

Also known as:HSPB3 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in HSPB3HMN 2C

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.

GeneticsAutosomal dominant · HSPB3 (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 always present findings: EMG: neuropathic changes, Hand muscle weakness, Steppage gait, and Distal upper limb muscle weakness and others; and common findings: Easy fatigability, Distal upper limb amyotrophy, Intrinsic hand muscle atrophy, and Absent patellar reflexes and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Hand muscle weakness, Distal upper limb muscle weakness, Distal lower limb muscle weakness

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.

HSPB3 encodes heat shock protein family B (small) member 3 (150 aa). Inhibitor of actin polymerization Highest expression in Heart Atrial Appendage (236.5 TPM) and Heart Left Ventricle (231.2 TPM).

Neuronopathy, distal hereditary motor, type 2C is associated with mutations in the HSPB3 gene on chromosome 5.

HSPB3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for HSPB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 5 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613376

GARD

Genetic and Rare Diseases Info Center

GARD:18264

Questions for Your Care Team

→Should I pursue genetic testing for HSPB3, 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, type 2C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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