Disease report

Tree Display

AceDB Schema

XML Display


Disease Report for: Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

Alternative name(s)|
Mutation|1 mutation:
OMIM: |613924, 613943

A mutation in LIPN, encoding epidermal lipase N (2 bp deletion results in the generation of a stop codon 2 aminoacids downstream of the mutation E133D), causes a late-onset form of autosomal-recessive congenital ichthyosis. Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI) Genes known to cause ARCI are: TGM1, ABCA12, ALOXE3, ALOX12B, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3

    Title: Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population
    Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
    Ref: Clinical & Experimental Dermatologyatol, 38:911, 2013 : PubMed


    Title: A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
    Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E
    Ref: American Journal of Human Genetics, 88:482, 2011 : PubMed


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page

Acknowledgements and disclaimer