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GTR Home > Conditions/Phenotypes > Neonatal ichthyosis-sclerosing cholangitis syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Synonyms
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; Ichthyosis-sclerosing cholangitis syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) is a rare autosomal recessive syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis (summary by Feldmeyer et al., 2006). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLD1, ILVASC, SEMP1, CLDN1
    Summary: claudin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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