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congenital myopathy 10b, mild variant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 10b, mild variant

MONDO:0859515

Overview

GeneticsAutosomal recessive · MEGF10 (chr 5)

OnsetADULT

ResearchLimited published research (1 article)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Difficulty climbing stairs, Low muscle tone (hypotonia), and Fatty replacement of skeletal muscle and others; and common findings: Achilles tendon contracture, Cleft palate, and Knee contracture. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	20

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.

MEGF10 encodes multiple EGF like domains 10 (1,140 aa). Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Highest expression in Brain Spinal cord cervical c-1 (16.1 TPM) and Brain Caudate basal ganglia (10.4 TPM).

Congenital myopathy 10b, mild variant is associated with mutations in the MEGF10 gene on chromosome 5.

MEGF10 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MEGF10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myopathy 10b, mild variant has been reported in the published literature.

Prognosis

Phenotype severity distribution: 31 always present features, 3 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 congenital myopathy 10b, mild variant.

1 publication has been identified in PubMed for congenital myopathy 10b, mild variant. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Slaba K (2024). [PMID: 39567597](https://pubmed.ncbi.nlm.nih.gov/39567597/). *Sci Rep*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620249

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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congenital myopathy 10b, mild variant

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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