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myopathy, myofibrillar, 13, with rimmed vacuoles - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, myofibrillar, 13, with rimmed vacuoles

MONDO:0976133

Overview

GeneticsAutosomal dominant · HSPB8 (chr 12)

ResearchLimited published research (5 articles)

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: Type 2 muscle fiber atrophy, Achilles tendon contracture, Muscle fiber splitting, and Hearing loss (hearing impairment) and others; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Scapular winging. 70 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	25	Type 2 muscle fiber atrophy, Achilles tendon contracture, Muscle fiber splitting

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.

HSPB8 encodes heat shock protein family B (small) member 8 (196 aa). Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Highest expression in Esophagus Muscularis (583.2 TPM) and Colon Sigmoid (522.6 TPM).

Myopathy, myofibrillar, 13, with rimmed vacuoles is associated with mutations in the HSPB8 gene on chromosome 12.

HSPB8 is classified as a druggable target (Kinase and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for HSPB8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 57 always present features, 2 very common features, 4 common features.

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 myopathy, myofibrillar, 13, with rimmed vacuoles.

5 publications have been identified in PubMed for myopathy, myofibrillar, 13, with rimmed vacuoles. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Other (20%).

Recent Publications

Zhou W (2026). [PMID: 41951012](https://pubmed.ncbi.nlm.nih.gov/41951012/). *Biochim Biophys Acta Mol Basis Dis*. [Review / Meta-Analysis]
Tedesco B (2025). [PMID: 40467930](https://pubmed.ncbi.nlm.nih.gov/40467930/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Holzer MT (2024). [PMID: 39012547](https://pubmed.ncbi.nlm.nih.gov/39012547/). *Acta Neuropathol*. [Other]
Findlay AR (2024). [PMID: 39501809](https://pubmed.ncbi.nlm.nih.gov/39501809/). *Dis Model Mech*. [Review / Meta-Analysis]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621078

Questions for Your Care Team

→Should I pursue genetic testing for HSPB8, 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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myopathy, myofibrillar, 13, with rimmed vacuoles

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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