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References OMIM Gene GeneReviews HGMD HGNC
last update : 31-03-2015
Symbol ADCL1
Location 7q11.23
Name cutis laxa autosomal dominant 1 (elastin reduced expression)
Corresponding gene ELN
Main clinical features
  • characterized by redundant, pendulous and inelastic skin, with disordered elastic fibers rather abruptly fragmented, disorganized and scarce with resultant emphysema, aortic aneurysm and bowel diverticula, in addition to cutis laxa
  • at electron microscopy extracellular elastin deposits lacking microfibrillar elements
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name elastin (ELN)