Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27-03-2009
Symbol WRN2
Location 1q22
Name Werner syndrome 2
Corresponding gene LMNA
Main clinical features
  • atypical, early onset, scleroderma-like skin changes, especially in the extremities, cataract, subcutaneous calcification, premature arteriosclerosis, diabetes mellitus, and a wizened and prematurely aged facies
    • Genetic determination autosomal recessive
    Related entries including cases with arthropathy, tendinous calcifications
    Function/system disorder connective tissue
    dermatology
    Type disease
    Gene product
    Name lamin A/C
    Remark(s) . NEMO (IKBKG) shuttle may link genotoxic stress to the activation of innate immunity system and cause premature aging via inflamm-aging process
    Genotype/Phenotype correlations phenotypic heterogeneity in body fat distribution in patients with heterozygous Arg133Leu lamin A/C mutation