Home
Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
18 Congenital disorders of glycosylation
18.3 Disorders of lipid glycosylation
18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis
Hyperphosphatasia-intellectual disability syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
PIGA-CDG
PIGC-CDG
PIGQ-CDG
PIGH-CDG
PIGP-CDG
PIGY-CDG
PIGL-CDG
PIGW-CDG
PIGM-CDG
PIGV-CDG
PIGN-CDG
PIGB-CDG
PIGO-CDG
PIGF-CDG
PIGG-CDG
PIGT-CDG
PIGS-CDG
PIGU-CDG
PIGK-CDG
GPAA1-CDG
C18ORF32 deficiency
PGAP1-CDG
PGAP3-CDG
PGAP2-CDG
ARV1 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
OnlineIMD
Home
Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
18 Congenital disorders of glycosylation
18.3 Disorders of lipid glycosylation
18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis
Hyperphosphatasia-intellectual disability syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
PIGA-CDG
PIGC-CDG
PIGQ-CDG
PIGH-CDG
PIGP-CDG
PIGY-CDG
PIGL-CDG
PIGW-CDG
PIGM-CDG
PIGV-CDG
PIGN-CDG
PIGB-CDG
PIGO-CDG
PIGF-CDG
PIGG-CDG
PIGT-CDG
PIGS-CDG
PIGU-CDG
PIGK-CDG
GPAA1-CDG
C18ORF32 deficiency
PGAP1-CDG
PGAP3-CDG
PGAP2-CDG
ARV1 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
PGAP2-CDG
Synonym(s)
Hyperphosphatasia with intellectual disability type 3
,
GPI biosynthesis defect type 8
Type
Disease
External link(s)
IEMbase
Gene
PGAP2
/ Phosphoglycosylphosphatidylinositol anchor biosynthesis class O protein 2
11p15.4
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphoglycosylphosphatidylinositol anchor biosynthesis class O protein 2
Disease group(s)
18.3.1 Disorders of glycosylphosphatidylinositol biosynthesis