Features include always present findings: Cholestasis, Alopecia, Liver scarring (fibrosis) (hepatic fibrosis), and Sclerosing cholangitis and others; and common findings: Portal hypertension, Bile duct proliferation, Enamel hypoplasia, and Sparse eyelashes and others. 25 total HPO annotations.

CLDN1 encodes claudin 1 (211 aa). Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. Highest expression in Skin Not Sun Exposed Suprapubic (496.9 TPM) and Skin Sun Exposed Lower leg (462.2 TPM).

Neonatal ichthyosis-sclerosing cholangitis syndrome is associated with mutations in the CLDN1 gene on chromosome 3.

CLDN1 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for CLDN1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 9 common features.

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

No clinical trials have been registered for neonatal ichthyosis-sclerosing cholangitis syndrome.

4 publications have been identified in PubMed for neonatal ichthyosis-sclerosing cholangitis syndrome. Research spans Other (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Maarouf S (2025). [PMID: 39659087](https://pubmed.ncbi.nlm.nih.gov/39659087/). *Pediatr Dermatol*. [Review / Meta-Analysis]

• Danish M (2025). [PMID: 39508651](https://pubmed.ncbi.nlm.nih.gov/39508651/). *Indian J Dermatol Venereol Leprol*. [Other]

• Ghosh U (2025). [PMID: 41035246](https://pubmed.ncbi.nlm.nih.gov/41035246/). *Clin Exp Pediatr*. [Case Report / Case Series]

• Mathews J (2025). [PMID: 38031705](https://pubmed.ncbi.nlm.nih.gov/38031705/). *Indian J Dermatol Venereol Leprol*. [Other]