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Entry
N00753                      Network                                

Name
PIGV deficiency in GPI-anchor biosynthesis
Definition
PI+UDP-GlcNAc -- (PIGA+PIGC+PIGH+PIGP+PIGQ+PIGY+DPM2) >> PIGL >> PIGW >> (PIGM+PIGX) >> PIGV*
  Expanded
(C01194+G10610) -- (5277+5279+5283+51227+9091+84992+8818) >> 9487 >> 284098 >> (93183+54965) >> 55650v1
Class
nt06018 GPI-anchor biosynthesis
Type
Variant
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
H01488  Hyperphosphatasia with mental retardation syndrome
Gene
5277  PIGA; phosphatidylinositol glycan anchor biosynthesis class A
5279  PIGC; phosphatidylinositol glycan anchor biosynthesis class C
5283  PIGH; phosphatidylinositol glycan anchor biosynthesis class H
51227  PIGP; phosphatidylinositol glycan anchor biosynthesis class P
9091  PIGQ; phosphatidylinositol glycan anchor biosynthesis class Q
84992  PIGY; phosphatidylinositol glycan anchor biosynthesis class Y
8818  DPM2; dolichyl-phosphate mannosyltransferase subunit 2, regulatory
9487  PIGL; phosphatidylinositol glycan anchor biosynthesis class L
284098  PIGW; phosphatidylinositol glycan anchor biosynthesis class W
93183  PIGM; phosphatidylinositol glycan anchor biosynthesis class M
54965  PIGX; phosphatidylinositol glycan anchor biosynthesis class X
55650  PIGV; phosphatidylinositol glycan anchor biosynthesis class V
Variant
55650v1  PIGV deficiency
Metabolite
C01194  1-Phosphatidyl-D-myo-inositol
G10610  UDP-N-acetyl-D-glucosamine
Reference
  Authors
Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P
  Title
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
  Journal
Am J Med Genet A 155A:1917-22 (2011)
DOI:10.1002/ajmg.a.34102
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