Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
OMIM:607626Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CLDN1 |
|---|---|
| Reference transcript | NM_021101.4 |
| DNA Change | c.200_201delTT |
| A.A. Change | p.Phe67X |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Nagtzaam IF, van Geel M, Driessen A, Steijlen PM, van Steensel MA.Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype. Br J Dermatol. 2010 Jul;163(1):205-7. |