ITGA7 encodes integrin subunit alpha 7 (1,181 aa). Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. Highest expression in Artery Tibial (340.3 TPM) and Artery Aorta (336.7 TPM).

Congenital muscular dystrophy due to integrin alpha-7 deficiency is associated with mutations in the ITGA7 gene on chromosome 12.

ITGA7 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 0.0.

Genetic testing for ITGA7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for congenital muscular dystrophy due to integrin alpha-7 deficiency.

3 publications have been identified in PubMed for congenital muscular dystrophy due to integrin alpha-7 deficiency. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Tan D (2025). [PMID: 40960171](https://pubmed.ncbi.nlm.nih.gov/40960171/). *Elife*. [Basic Science / Preclinical]

• Hermann HJ (2025). [PMID: 41118381](https://pubmed.ncbi.nlm.nih.gov/41118381/). *JCI Insight*. [Basic Science / Preclinical]

• Xuan W (2025). [PMID: 40945909](https://pubmed.ncbi.nlm.nih.gov/40945909/). *Am J Pathol*. [Review / Meta-Analysis]