KEGG DISEASE: PIGM-congenital disorder of glycosylation

DISEASE: PIGM-congenital disorder of glycosylation

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 disorder

Brite

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
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06018  GPI-anchor biosynthesis
   H01127  PIGM-congenital disorder of glycosylation

Pathway

hsa00563

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis

Network

nt06018 GPI-anchor biosynthesis

Gene

PIGM [HSA:93183] [KO:K05284]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:16767100

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

PMID:17442906

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

LinkDB

» Japanese version

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