KEGG   DISEASE: PIGM-congenital disorder of glycosylationHelp
Entry
H01127                      Disease                                

Name
PIGM-congenital disorder of glycosylation
  Supergrp
Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
Description
PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this disorder.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01127  PIGM-congenital disorder of glycosylation
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01127  PIGM-congenital disorder of glycosylation
BRITE hierarchy
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018  GPI-anchor biosynthesis
  Element
N00754  PIGM deficiency in GPI-anchor biosynthesis
Gene
PIGM [HSA:93183] [KO:K05284]
Other DBs
ICD-11: 5C54.Y
ICD-10: E88.8
MeSH: C537277
OMIM: 610293
Reference
  Authors
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A
  Title
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
  Journal
Nat Med 12:846-51 (2006)
DOI:10.1038/nm1410
Reference
  Authors
Almeida AM, Murakami Y, Baker A, Maeda Y, Roberts IA, Kinoshita T, Layton DM, Karadimitris A
  Title
Targeted therapy for inherited GPI deficiency.
  Journal
N Engl J Med 356:1641-7 (2007)
DOI:10.1056/NEJMoa063369
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