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oculopharyngodistal myopathy 3 (OPDM3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculopharyngodistal myopathy 3

MONDO:0023671

Also known as:OPDM3

Overview

GeneticsAutosomal dominant · NOTCH2NLC (chr 1)

ResearchLimited published research (5 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: Limb muscle weakness, Increased endomysial connective tissue, Rimmed vacuoles, and Hyporeflexia and others; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Distal amyotrophy, Ataxia, and Weakness of facial musculature and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6

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.

NOTCH2NLC encodes notch 2 N-terminal like C (293 aa). Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway.

Oculopharyngodistal myopathy 3 is associated with mutations in the NOTCH2NLC gene on chromosome 1.

The NOTCH2NLC protein participates in Transcription of NOTCH2NLC gene, NOTCH2NLB, (NOTCH2NLA, NOTCH2NLC) bind DLL1, (DLL4, JAG1, JAG2), and Transcription of NOTCH2NLR gene pathways.

NOTCH2NLC is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NOTCH2NLC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for oculopharyngodistal myopathy 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 7 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 oculopharyngodistal myopathy 3.

5 publications have been identified in PubMed for oculopharyngodistal myopathy 3. Research spans Basic Science / Preclinical (40%), Other (20%), and Diagnostic / Biomarker (20%).

Recent Publications

Boivin M (2026). [PMID: 41703050](https://pubmed.ncbi.nlm.nih.gov/41703050/). *Nat Genet*. [Basic Science / Preclinical]
Ishiura H (2025). [PMID: 40033734](https://pubmed.ncbi.nlm.nih.gov/40033734/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Pongpakdee S (2024). [PMID: 39308795](https://pubmed.ncbi.nlm.nih.gov/39308795/). *Neurol Genet*. [Basic Science / Preclinical]
Ma J (2024). [PMID: 39505310](https://pubmed.ncbi.nlm.nih.gov/39505310/). *J Clin Neurol*. [Diagnostic / Biomarker]
Henden L (2024). [PMID: 38726482](https://pubmed.ncbi.nlm.nih.gov/38726482/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619473

Questions for Your Care Team

→Should I pursue genetic testing for NOTCH2NLC, 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?

← Back to All Diseases

Kisho

oculopharyngodistal myopathy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.

oculopharyngodistal myopathy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy.