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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

A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. [from SNOMEDCT_US]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 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

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Imported from Human Phenotype Ontology (HPO)

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