Features include always present findings: Severe short stature, Strabismus, Megalocornea, and Short stature and others; and common findings: Epicanthus, Nystagmus, Delayed skeletal maturation, and Joint hypermobility and others. 63 total HPO annotations.

ANTXR1 encodes ANTXR cell adhesion molecule 1 (564 aa). Plays a role in cell attachment and migration. Highest expression in Artery Aorta (318.5 TPM) and Artery Coronary (266.2 TPM).

GAPO syndrome is caused by mutations in the ANTXR1 gene on chromosome 2.

The ANTXR1 protein participates in ANTXR1-bound pagA(197-794) forms oligomers and cya and lef bind to pagA(197-794):ANTXR1 oligomer pathways.

ANTXR1 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 0.0.

Genetic testing for ANTXR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for GAPO syndrome has been reported in the published literature.

Phenotype severity distribution: 26 always present features, 11 common features.

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

No clinical trials have been registered for GAPO syndrome.

106 publications have been identified in PubMed for GAPO syndrome. Research spans Basic Science / Preclinical (35%), Review / Meta-Analysis (26%), and Case Report / Case Series (24%).