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nemaline myopathy 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 6

MONDO:0012237

Also known as:KBTBD13 nemaline myopathynemaline myopathy 6, autosomal dominantnemaline myopathy caused by mutation in KBTBD13

Overview

Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.

GeneticsAutosomal dominant · KBTBD13 (chr 15)

ResearchLimited published research (3 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: Skeletal muscle atrophy, Facial palsy, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Muscle stiffness and 8 more.

Organ System	Phenotype Count	Example Features
Muscles	6	Skeletal muscle atrophy, Muscle stiffness, Myopathy

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.

KBTBD13 encodes kelch repeat and BTB domain containing 13 (458 aa). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex Highest expression in Artery Tibial (2.6 TPM) and Muscle Skeletal (1.5 TPM).

Nemaline myopathy 6 is caused by mutations in the KBTBD13 gene on chromosome 15.

KBTBD13 is classified as a druggable target (Ion Channel category) with score 0.0.

Diagnosis

Genetic testing for KBTBD13 is available. Testing is considered confirmatory for diagnosis.

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 nemaline myopathy 6.

3 publications have been identified in PubMed for nemaline myopathy 6. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Harikrishna GV (2024). [PMID: 38968056](https://pubmed.ncbi.nlm.nih.gov/38968056/). *J Neuromuscul Dis*. [Epidemiology / Natural History]
van Kleef ESB (2024). [PMID: 39240645](https://pubmed.ncbi.nlm.nih.gov/39240645/). *J Neuromuscul Dis*. [Case Report / Case Series]
van Kleef ESB (2024). [PMID: 39651462](https://pubmed.ncbi.nlm.nih.gov/39651462/). *Neurol Genet*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609273

GARD

Genetic and Rare Diseases Info Center

GARD:15452

Questions for Your Care Team

→Should I pursue genetic testing for KBTBD13, 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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nemaline myopathy 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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