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References OMIM Gene GeneReviews HGMD HGNC
last update : 25/02/2008
Symbol ASMD2
Location 10q24.32
HGNC id 749
Name ocular anterior segment mesenchymal dysgenesis 2
Corresponding gene PITX3
Other symbol(s) CCAD, ASMD, ASOD
Main clinical features
  • clinical findings ranged from an anterior Schwalbe line with mild cataract to severe corneal opacification with moderate cataract, while visual acuity varied from 20/20 to hand motion only
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name PITX3, member of the RIEG/PITX homeo box gene family 3