Features include always present findings: Seizure and Global developmental delay; and very common findings: Overactive reflexes (hyperreflexia) and Increased CSF protein concentration. 38 total HPO annotations.

OCLN encodes occludin (522 aa). May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions Highest expression in Thyroid (11.7 TPM) and Lung (7.1 TPM).

Pseudo-TORCH syndrome 1 is associated with mutations in the OCLN gene on chromosome 5.

The OCLN protein participates in OCLN (Occludin) gene expression is stimulated by RUNX1, Mammary stem cell produces myoepithelial/basal progenitor, and Embryonic ectoderm cell produces mammary stem cell pathways.

OCLN is classified as a druggable target (Druggable Genome and Transporter categories) with score 1.1.

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

Phenotype severity distribution: 2 always present features, 2 very common features, 3 common features.

No clinical trials have been registered for pseudo-TORCH syndrome 1.

48 publications have been identified in PubMed for pseudo-TORCH syndrome 1. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (19%).