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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol ILVASC
Location 3q28
Name ichthyosis-sclerosing cholangitis syndrome
Other name(s)
  • neonatal ichthyosis-sclerosing cholangitis syndrome
  • Nisch syndrome
  • Corresponding gene CLDN1
    Other symbol(s) NISCH
    Main clinical features
  • scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization, and at skin biopsy split anchoring plaques of desmosomes in the granular layer
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    hematology
    Type disease
    Gene product
    Name claudin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein in exon 1 of the claudin-1 gene arising in a premature stop codon and resulting in total absence of claudin-1 protein in the liver and skin
    Remark(s)