Features include always present findings: Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, and Weakness of facial musculature and others; and very common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and External ophthalmoplegia.

GIPC1 encodes GIPC PDZ domain containing family member 1 (333 aa). May be involved in G protein-linked signaling Highest expression in Esophagus Mucosa (340.8 TPM) and Vagina (186.9 TPM).

Oculopharyngodistal myopathy 2 is associated with mutations in the GIPC1 gene on chromosome 19.

The GIPC1 protein participates in TGFBR3 binding to GIPC1, FGF2:TGFBR3 binding to GIPC1, and TGFBR3 degradation pathways.

GIPC1 is classified as a druggable target with score 0.0.

Genetic testing for GIPC1 is available. Testing is considered confirmatory for diagnosis.

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

Phenotype severity distribution: 9 always present features, 2 very common features.

No clinical trials have been registered for oculopharyngodistal myopathy 2.

8 publications have been identified in PubMed for oculopharyngodistal myopathy 2. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Recent Publications

• Eura N (2026). [PMID: 41888971](https://pubmed.ncbi.nlm.nih.gov/41888971/). *Genome Med*. [Basic Science / Preclinical]

• Jiao K (2025). [PMID: 41121761](https://pubmed.ncbi.nlm.nih.gov/41121761/). *Brain*. [Basic Science / Preclinical]

• Hobara T (2025). [PMID: 39013564](https://pubmed.ncbi.nlm.nih.gov/39013564/). *J Neurol Neurosurg Psychiatry*. [Basic Science / Preclinical]

• Boivin M (2025). [PMID: 40488265](https://pubmed.ncbi.nlm.nih.gov/40488265/). *Curr Opin Neurol*. [Review / Meta-Analysis]

• Wang W (2025). [PMID: 40084170](https://pubmed.ncbi.nlm.nih.gov/40084170/). *Front Genet*. [Case Report / Case Series]