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Table 1 Genes in the GPI biosynthetic pathway anchoring process, Synthesis stage

From: Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Gene name (Entrez ID)# Patients curatedDisease AssociationInheritance
DPM1 (8813)3OMIM:608799 CDG, Type Ie [10]AR
DPM2 (8818)3OMIM:615042; CDG, Type Iu [11]AR
DPM3 (54344)2OMIM:612937 CDG, Type Io, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 [12]AR
MPDU1 (9526)1OMIM:609180 CDG, Type If [13]AR
PIGA (5277)21OMIM:300868 Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 (MCAHS 2); MIM:300818 Paroxysmal Nocturnal Hemoglobinuria 1 [14]XLR
PIGB (9488)0n/a 
PIGC (5279)3OMIM:617816 GPI Biosynthesis Defect 16 [15]AR
PIGF (5281)0n/a 
PIGG (54872)5OMIM:616917 Mental Retardation, Autosomal Recessive 53 [16]AR
PIGH (5283)1OMIM: 618010 GPI Biosynthesis Defect 17 [17]AR
PIGL (9487)8OMIM:280000 Chime Syndrome [18,19,20]AR
PIGM (93183)3OMIM:610293 Glycosylphosphatidylinositol Deficiency [21]AR
PIGN (23556)11OMIM:614080 MCAHS 1AR
PIGO (84720)9OMIM:614749 HPMRS 2AR
PIGP (51227)2OMIM:617599 Epileptic Encephalopathy, Early Infantile, 55 (EIEE 55) [22]AR
PIGQ (9091)1Possible Association With Early Infantile Epileptic Encephalopathy (EIEE) [17, 18] 
PIGV (55650)13OMIM:239300 HPMRS 1AR
PIGW (284098)3OMIM:616025 GPI Biosynthesis Defect 11AR
PIGX (54965)0n/a 
PIGY (84992)4OMIM:616025 HPMRS 6AR
  1. AR Autosomal recessive, AD Autosomal dominant, XLR X-linked recessive. The Online Mendelian Inheritance in Man (OMIM) identifier for the disease is shown if available. Abbreviations: GPI Glycosylphosphatidylinositol, HPMRS Hyperphosphatasia With Mental Retardation Syndrome, MCAHS Multiple congenital anomalies-hypotonia-seizures, CDG Congenital Disorder Of Glycosylation, EIEE Early Infantile Epileptic Encephalopathy, PNH Paroxysmal Nocturnal Hemoglobinuria, ARMR Autosomal recessive mental retardation. “n/a” is entered in the Disease Association column if no such association has been identified to date