Features include always present findings: Bilateral renal agenesis, Talipes equinovarus, Potter facies, and Anhydramnios; and common findings: Pulmonary hypoplasia. 15 total HPO annotations.

ITGA8 encodes integrin subunit alpha 8 (1,063 aa). Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. Highest expression in Artery Aorta (722.0 TPM) and Artery Coronary (313.0 TPM).

Renal hypodysplasia/aplasia 1 is associated with mutations in the ITGA8 gene on chromosome 10.

The ITGA8 protein participates in Expression of NPNT in the nephric duct, Formation of the ureteric bud, and Formation of the nephric duct pathways.

ITGA8 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 0.0.

Genetic testing for ITGA8 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 1 common feature.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.

2 publications have been identified in PubMed for renal hypodysplasia/aplasia 1. Research spans Case Report / Case Series (100%).

Recent Publications

• Vaqueiro Graña M (2026). [PMID: 40569305](https://pubmed.ncbi.nlm.nih.gov/40569305/). *Pediatric nephrology (Berlin, Germany)*. [Case Report / Case Series]

• Zhang X (2024). [PMID: 39192449](https://pubmed.ncbi.nlm.nih.gov/39192449/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]