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Features include always present findings: Flexion contracture, Distal joint hypermobility, Low muscle tone (hypotonia), and Motor delay and others; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration). 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 7 | Flexion contracture, Myopathy, Low muscle tone (hypotonia) |
COL12A1 function has not been fully characterized.
Bethlem myopathy 2 is associated with mutations in the COL12A1 gene on chromosome 6.
Genetic testing for COL12A1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 9 always present features, 1 very common feature, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Bethlem myopathy 2.
14 publications have been identified in PubMed for Bethlem myopathy 2. Research spans Case Report / Case Series (57%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 57% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Bethlem myopathy 2
Bones and joints |
4 |
Sideways curvature of the spine (scoliosis), Distal joint hypermobility, Excessive outward curvature of the upper spine (kyphosis) |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Age of onset: infancy, childhood.
2 |
14% |
Disease patterns and progression | 2 | 14% |
Research summaries | 1 | 7% |
Clinical study results | 1 | 7% |
Krstic A (2026). [PMID: 41424287](https://pubmed.ncbi.nlm.nih.gov/41424287/). *Acta physiologica (Oxford, England)*. [Basic Science / Preclinical]
Herrera Malpica WS (2025). [PMID: 40626679](https://pubmed.ncbi.nlm.nih.gov/40626679/). *Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology*. [Case Report / Case Series]
Merlini L (2025). [PMID: 40508193](https://pubmed.ncbi.nlm.nih.gov/40508193/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Fortunato F (2025). [PMID: 41154655](https://pubmed.ncbi.nlm.nih.gov/41154655/). *Biomolecules*. [Case Report / Case Series]
Huang H (2025). [PMID: 39985652](https://pubmed.ncbi.nlm.nih.gov/39985652/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
O'Sullivan J (2025). [PMID: 40322673](https://pubmed.ncbi.nlm.nih.gov/40322673/). *Obstetric medicine*. [Basic Science / Preclinical]
Manzo R (2025). [PMID: 40626681](https://pubmed.ncbi.nlm.nih.gov/40626681/). *Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology*. [Case Report / Case Series]
McCarty RM (2025). [PMID: 39923201](https://pubmed.ncbi.nlm.nih.gov/39923201/). *Annals of clinical and translational neurology*. [Epidemiology / Natural History]
Charng WL (2024). [PMID: 38663984](https://pubmed.ncbi.nlm.nih.gov/38663984/). *Journal of medical genetics*. [Clinical Trial Publication]
El Sherif R (2024). [PMID: 38544966](https://pubmed.ncbi.nlm.nih.gov/38544966/). *Neurology. Genetics*. [Case Report / Case Series]
AI-curated news mentioning Bethlem myopathy 2
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.