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myopathy, centronuclear, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, centronuclear, 2

MONDO:0009709

Also known as:BIN1 centronuclear myopathycentronuclear myopathy 2centronuclear myopathy caused by mutation in BIN1

Overview

Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.

GeneticsAutosomal recessive · BIN1 (chr 2)

OnsetCONGENITAL

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: Proximal muscle weakness and Centrally nucleated skeletal muscle fibers; and common findings: Facial palsy, Flexion contracture, Oligohydramnios, and Decreased fetal movement and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Flexion contracture, Distal muscle weakness, Gowers sign

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.

BIN1 encodes bridging integrator 1 (593 aa). Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Highest expression in Muscle Skeletal (953.2 TPM) and Brain Spinal cord cervical c-1 (203.1 TPM).

Myopathy, centronuclear, 2 is associated with mutations in the BIN1 gene on chromosome 2.

BIN1 is classified as a druggable target with score 3.1.

Diagnosis

Genetic testing for BIN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, centronuclear, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 5 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, centronuclear, 2.

74 publications have been identified in PubMed for myopathy, centronuclear, 2. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (22%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Laboratory research	31	42%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:255200

GARD

Genetic and Rare Diseases Info Center

GARD:15208

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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myopathy, centronuclear, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, centronuclear, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications