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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 13/07/2006 |
Symbol | ILVASC |
Location | 3q28 |
Name | ichthyosis-sclerosing cholangitis syndrome |
Other name(s) |
|
Corresponding gene | CLDN1 |
Other symbol(s) | NISCH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | dermatology |
hematology | |
Type | disease |
Gene product |
Name | claudin 1 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| 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) |