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inclusion body myopathy and brain white matter abnormalities - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inclusion body myopathy and brain white matter abnormalities

MONDO:0850514

Overview

GeneticsAutosomal dominant · ANXA11 (chr 10)

ResearchLimited published research (2 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: Scapular winging, Abdominal wall muscle weakness, Proximal lower limb muscle weakness, and Proximal upper limb muscle weakness; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Low back pain. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Fasciculations, Fatty replacement of skeletal muscle, Weakness of facial musculature

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.

ANXA11 encodes annexin A11 (505 aa). Binds specifically to calcyclin in a calcium-dependent manner. Required for midbody formation and completion of the terminal phase of cytokinesis Highest expression in Artery Aorta (126.4 TPM) and Artery Tibial (113.4 TPM).

Inclusion body myopathy and brain white matter abnormalities is associated with mutations in the ANXA11 gene on chromosome 10.

ANXA11 is classified as a druggable target with score 6.5.

Diagnosis

Genetic testing for ANXA11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 inclusion body myopathy and brain white matter abnormalities.

2 publications have been identified in PubMed for inclusion body myopathy and brain white matter abnormalities. Research spans Basic Science / Preclinical (100%).

Recent Publications

Ghayal NB (2025). [PMID: 41225259](https://pubmed.ncbi.nlm.nih.gov/41225259/). *Acta neuropathologica*. [Basic Science / Preclinical]
Arseni D (2024). [PMID: 39260416](https://pubmed.ncbi.nlm.nih.gov/39260416/). *Nature*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619733

Questions for Your Care Team

→Should I pursue genetic testing for ANXA11, 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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inclusion body myopathy and brain white matter abnormalities

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

Questions for Your Care Team

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