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GENATLAS PHENOTYPE
last update : 12-04-2019
Symbol CASGID
Location 2q32.2
Name infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Corresponding gene GLS
Main clinical features
  • infantile cataract, skin abnormalities, glutamate excess, and profound developmental delay
  • recurrent dermatologic abnormalities characterized as erythematic subcutaneous nodule; histopathologic analysis of these lesions showed deep perivascular and periglandular lymphohistiocytic infiltrates
  • cerebrospinal fluid and plasma levels of glutamate and glutamine were unaffected
  • brain MRI showed delayed myelination; analyses of stored urine samples similarly showed low concentrations of glutamine and high concentrations of glutamate
  • Genetic determination autosomal dominant
    Function/system disorder eye
    dermatology
    mental retardation
    metabolism/aminoacids
    Type disease
    Remark(s)