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GENATLAS PHENOTYPE
last update : 25-05-2011
Symbol ELPAR
Location 1q21.3
HGNC id 19706
Name Ectopia Lentis and Pupillae Autosomal Recessive
Other name(s)
  • thrombospondin repeat containing 1
  • Corresponding gene ADAMTSL4
    Other symbol(s) TSRC1
    Main clinical features
  • increased median corneal thickness and astigmatism, angle malformation with prominent iris processes, displacement of the pupil and lens, lens coloboma, spherophakia, loss of zonular threads, early cataract development, glaucoma, and retinal detachment (PMID:20702823))
  • Genetic determination
    Function/system disorder eye
    Type disease
    Gene product
    Name ADAMTS-like 4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein PMID:20702823
    Remark(s) associated with a number of malformations primarily in the anterior segment of the eye