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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))