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GENATLAS PHENOTYPE
last update : 25-10-2018
Symbol GPIBD18
Location 17q11.2
Name glycosylphosphatidylinositol biosynthesis defect 18
Corresponding gene PIGS
Main clinical features
  • developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures, profound developmental delay
  • in any cases, abnormalities of the hands and feet, and feeding difficulties
  • brain imaging showed cerebellar or cortical atrophy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    neurology
    Type disease
    Remark(s)
  • disorder results from the failure of the GPI transamidase complex, which includes PIGS, to transfer the GPI anchor to the precursor protein bearing a GPI-attachment signal sequence (PMID: 30269814))