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

Rare Disease

neuronopathy, distal hereditary motor, type 2B

MONDO:0012080

Also known as:HSPB1 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in HSPB1HMN 2B

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.

GeneticsAutosomal dominant · HSPB1 (chr 7)

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: EMG: neuropathic changes, Difficulty walking (gait disturbance), Distal lower limb muscle weakness, and Peripheral neuropathy and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	EMG: neuropathic changes, Difficulty walking (gait disturbance), Peripheral neuropathy

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.

HSPB1 encodes heat shock protein family B (small) member 1 (205 aa). Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Plays a role in stress resistance and actin organization. Highest expression in Esophagus Mucosa (4,134 TPM) and Artery Aorta (3,780 TPM).

Neuronopathy, distal hereditary motor, type 2B is associated with mutations in the HSPB1 gene on chromosome 7.

The HSPB1 protein participates in HSF1-mediated gene expression pathway.

HSPB1 is classified as a druggable target (Druggable Genome category) with score 4.4.

Diagnosis

Genetic testing for HSPB1 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608634

GARD

Genetic and Rare Diseases Info Center

GARD:18263

Questions for Your Care Team

→Should I pursue genetic testing for HSPB1, 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 2B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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