GenTIGSA Gene Database on Rare Genetic Disorders
Neonatal Ichthyosis-sclerosing Cholangitis Syndrome  
Disease Aliases (11)

Ihsc

Ilvasc

Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Nisch (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome

Nisch syndrome

Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ilvasc

Associated Genes (1)
 

NCBI-RefSeq:  CLDN1   (Claudin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations