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last update : 22-05-2018
Symbol EDS4A
Location 2q32.2
Name Ehlers-Danlos syndrome, type IV
Other name(s)
  • Ehlers-Danlos syndrome, vascular type
  • Ehlers-Danlos syndrome, arterial-ecchymotic type
  • Corresponding gene COL3A1
    Other symbol(s) EDSIV, EDSVASC
    Main clinical features
  • fragile thin, translucent skin, leading to premature death, extensive bruising, characteristic facial appearance, arterial/intestinal/uterine fragility or rupture
  • joint and dermal manifestations but also proneness to spontaneous rupture of bowel and large arteries
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder connective tissue
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types     more than 200 mutations identified, approximately two thirds are single-nucleotide substitutions that result in substitution of glycine residues in the triple helical domain, most of the rest are splice site mutations
    Genotype/Phenotype correlations
  • homozygous nucleotide duplication (c.479dupT) resulting in a premature termination codon associated to recessive form (Plancke 2009)