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GENATLAS PHENOTYPE
last update : 04-03-2019
Symbol WGN1
Location 5q14.3
HGNC id 118661
Name Wagner disease
Corresponding gene VCAN
related resource Retinal Information Network
Main clinical features
  • hereditary vitreoretinopathy, showing the classic features of vitreous pathology and early-onset retinal detachments
  • associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous
  • no associated systemic features
  • chronic uveitis since infancy associated with exudative retinal detachment in the context of a severe vitreoretinopathy (PMID:21738396))
    • Genetic determination autosomal dominant
    autosomal recessive
    Related entries also cases of isolated developmental anomaly of the dental and periodontal structures which was associated with spontaneous tooth exfoliation (PMID: 30740127)
    Function/system disorder eye
    Type disease
    Gene product
    Name chondroitin sulfate proteoglycan-2 (CSPG2; 118661), also known as versican, a proteoglycan present in the vitreous body of the eye.
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal RNA sequence variants in the splice acceptor site of intron 7 or intron 8
    abnormal splicing     c.4004-2A>T (PMID:21738396)
    Remark(s)
  • Wagner disease and erosive vitreoretinopathy are allelic disorders, genetically distinct from COL2A1-associated Stickler syndrome
  • homozygous recessive H2665L missense sequence variant impairs the normal morphology of the teeth roots via loss of cementum synthesis, and is also associated with early onset, recessive, Wagner syndrome (PMID: 30740127))
    • Genotype/Phenotype correlations