CLDN19 encodes claudin 19 (224 aa). Forms paracellular channels: coassembles with CLDN16 into tight junction strands with cation-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability. Highest expression in Nerve Tibial (188.7 TPM) and Kidney Medulla (31.2 TPM).

Renal hypomagnesemia 5 with ocular involvement is associated with mutations in the CLDN19 gene on chromosome 1.

CLDN19 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for CLDN19 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 1 very common feature, 4 common features.

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

No clinical trials have been registered for renal hypomagnesemia 5 with ocular involvement.

103 publications have been identified in PubMed for renal hypomagnesemia 5 with ocular involvement. Kisho has analyzed 25 by research type. Research spans Review / Meta-Analysis (84%), Case Report / Case Series (8%), and Basic Science / Preclinical (4%).

Recent Publications

• Wang C (2026). [PMID: 41896308](https://pubmed.ncbi.nlm.nih.gov/41896308/). *Sci Rep*. [Case Report / Case Series]

• Jachiet V (2025). [PMID: 40476413](https://pubmed.ncbi.nlm.nih.gov/40476413/). *Rev Prat*. [Review / Meta-Analysis]

• Hartung KJ (2025). [PMID: 40736853](https://pubmed.ncbi.nlm.nih.gov/40736853/). *Adv Exp Med Biol*. [Review / Meta-Analysis]

• Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]

• Kaul A (2025). [PMID: 40915300](https://pubmed.ncbi.nlm.nih.gov/40915300/). *Lancet Rheumatol*. [Review / Meta-Analysis]

• Brokke KE (2025). [PMID: 40634186](https://pubmed.ncbi.nlm.nih.gov/40634186/). *Br J Anaesth*. [Review / Meta-Analysis]

• Zoref-Lorenz A (2025). [PMID: 39656557](https://pubmed.ncbi.nlm.nih.gov/39656557/). *Leuk Lymphoma*. [Review / Meta-Analysis]

• Krusche M (2025). [PMID: 40960635](https://pubmed.ncbi.nlm.nih.gov/40960635/). *Z Rheumatol*. [Review / Meta-Analysis]

• Paller AS (2025). [PMID: 40184496](https://pubmed.ncbi.nlm.nih.gov/40184496/). *Br J Dermatol*. [Review / Meta-Analysis]

• Fann Marko R (2025). [PMID: 39987477](https://pubmed.ncbi.nlm.nih.gov/39987477/). *Harefuah*. [Review / Meta-Analysis]