Features include always present findings: Seizure, Enlarged liver (hepatomegaly), Secondary microcephaly, and Cataract and others; and common findings: Ectopic kidney, Cystic renal dysplasia, and Cryptorchidism. 15 total HPO annotations.

JAM3 encodes junctional adhesion molecule 3 (310 aa). Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes. Highest expression in Artery Tibial (142.5 TPM) and Artery Aorta (122.4 TPM).

Porencephaly-microcephaly-bilateral congenital cataract syndrome is associated with mutations in the JAM3 gene on chromosome 11.

The JAM3 protein participates in Integrin alphaXbeta2:JAM3, Integrin alphaMbeta2:JAM3, and integrin alpha4beta1:JAM2:JAM3 pathways.

JAM3 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for JAM3 is available. Testing is considered confirmatory for diagnosis.

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

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

No clinical trials have been registered for porencephaly-microcephaly-bilateral congenital cataract syndrome.

153 publications have been identified in PubMed for porencephaly-microcephaly-bilateral congenital cataract syndrome. Kisho has analyzed 34 by research type. Research spans Review / Meta-Analysis (26%), Case Report / Case Series (26%), and Basic Science / Preclinical (26%).