GPI biosynthesis disorders

For clinicians and scientists

A review we have written on these disorders can be found here: https://doi.org/10.1111/cge.13425

We continue compiling clinical details on affected individuals using this initiative: https://humandiseasegenes.nl/gene-websites. Please go to the relevant gene page, and click "Professionals" and "Upload clinial information".

Regarding potential therapies for difficult-to-control seizures, if applicable, you could consider Vitamin B6 (100 mg per day), which helps with many defects in this pathway, see notably our publication on PIGS deficiency. More experimentally, based on the folate receptor being GPI-anchored, you could consider trying Folinic acid (1 mg/kg/day per day) and also Mefolinate (30 mg PO BID). Each of these three medications should be tried on separate weeks to assess the effect of the medicine, keeping a seizure journal and ideally performing EEGs before and after any drug. If these are tested with your neurologist, please inform us of their efficacy at p.campeau@umontreal.ca. Please also see this publication reporting the benefit of adding folinic acid for PGAP2 deficiency: https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12347

We have listed proven and predicted GPI-anchored proteins here: https://sites.google.com/view/gpi-ap-database

Gene mutation databases

PIGA gene homepage

phosphatidylinositol glycan anchor biosynthesis, class A

PIGA published variants

PIGA published patients

PIGB gene homepage

phosphatidylinositol glycan anchor biosynthesis, class C

PIGB published variants

PIGB published patients

PIGC gene homepage

phosphatidylinositol glycan anchor biosynthesis, class C

PIGC published variants

PIGC published patients

PIGG gene homepage

phosphatidylinositol glycan anchor biosynthesis, class G

PIGG published variants

PIGG published patients

PIGH gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class H

PIGH published variants

PIGH published patients

PIGK gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class H

PIGK published variants

PIGK published patients

PIGL gene hompepage

Phosphatidylinositol glycan anchor biosynthesis, class L

PIGL published variants

PIGL published patients

PIGM gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class M

PIGM published variants

PIGM published patients

PIGN gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class N

PIGN published variants

PIGN published patients

PIGO gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class O

PIGO published variants

PIGO published patients

PIGP gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class P

PIGP published variants

PIGP published patients

PIGQ gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class Q

PIGQ published variants

PIGQ published patients

PIGS gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class S

PIGS published variants

PIGS published patients

PIGT gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class T

PIGT published variants

PIGT published patients

PIGU gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class U

PIGU published variants

PIGU published patients

PIGV gene hompage

Phosphatidylinositol glycan anchor biosynthesis, class V

PIGV published variants

PIGV published patients

PIGW gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class W

PIGW published variants

PIGW published patients

PIGY gene homepage

Phosphatidylinositol glycan anchor biosynthesis, class Y

PIGY published variants

PIGY published patients

PGAP1 gene homepage

Post-GPI attachment to proteins 1

PGAP1 published variants

PGAP1 published patients

PGAP2 gene homepage

Post-GPI attachment to proteins 2

PGAP2 published variants

PGAP2 published patients

PGAP3 gene homepage

Post-GPI attachment to proteins 3

PGAP3 published variants

PGAP3 published patients

GPAA1 gene homepage

Glycosylphosphatidylinositol anchor attachment 1

GPAA1 published variants

GPAA1 published patients

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