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References OMIM Gene GeneReviews HGMD HGNC
last update : 31-03-2015
Symbol CLAR1A
Location 14q32.12
HGNC id 3602
Name cutis laxa, type 1A
Corresponding gene FBLN5
Other symbol(s) CLAR1, ARCL1A
Main clinical features
  • cutis laxa with severe systemic connective tissue abnormalities, associated with multiple diverticula emphysema, multiple hermias, with deficiency of elastic fibers in the skin
  • in any cases associated to pulmonary emphysema and vascular anomalies
  • Genetic determination autosomal recessive
    Related entries including autosomal dominant cutis laxa
    Function/system disorder respiratory
    Type disease
    Gene product
    Name fibulin 5
    Gene mutationChromosome rearrangementEffectComments
    missense   other perturbations of the secondary structure