KEGG   DISEASE: Inherited glycosylphosphatidylinositol deficienciesHelp
Entry
H01489                      Disease                                

Name
Inherited glycosylphosphatidylinositol deficiencies
  Subgroup
Metachromatic leukodystrophy [DS:H01127]
Autosomal recessive mental retardation-42 [DS:H01485]
Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
CHIME syndrome [DS:H01487]
Hyperphosphatasia with mental retardation syndrome [DS:H01488]
Description
Inherited glycosylphosphatidylinositol (GPI) deficiencies (IGD) are a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutation in at least twelve have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, hyperphosphatasia, (neonatal) seizures, hypotonia, and neurological symptoms, growth abnormalities, and congenital abnormalities.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01489  Inherited glycosylphosphatidylinositol deficiencies
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
     H01489  Inherited glycosylphosphatidylinositol deficiencies
BRITE hierarchy
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018  GPI-anchor biosynthesis
  Element
N00749  PGAP1 deficiency in GPI-anchor biosynthesis
N00750  PIGT deficiency in GPI-anchor biosynthesis
N00751  PIGO deficiency in GPI-anchor biosynthesis
N00752  PIGN deficiency in GPI-anchor biosynthesis
N00753  PIGV deficiency in GPI-anchor biosynthesis
N00754  PIGM deficiency in GPI-anchor biosynthesis
N00755  PIGW deficiency in GPI-anchor biosynthesis
N00756  PIGL deficiency in GPI-anchor biosynthesis
N00757  PIGA deficiency in GPI-anchor biosynthesis
N00758  PIGY deficiency in GPI-anchor biosynthesis
Gene
(PIGM-CDG) PIGM [HSA:93183] [KO:K05284]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MCAHS 1) PIGN [HSA:23556] [KO:K05285]
(MCAHS 2) PIGA [HSA:5277] [KO:K03857]
(MCAHS 3) PIGT [HSA:51604] [KO:K05292]
(CHIME) PIGL [HSA:9487] [KO:K03434]
(HPMRS1) PIGV [HSA:55650] [KO:K07542]
(HPMRS2) PIGO [HSA:84720] [KO:K05288]
(HPMRS3) PGAP2 [HSA:27315]
(HPMRS4) PGAP3 [HSA:93210]
(HPMRS5) PIGW [HSA:284098] [KO:K05283]
(HPMRS6) PIGY [HSA:84992] [KO:K11001]
Other DBs
ICD-11: 5C54.Y
OMIM: 610293 615802 614080 300868 615398 280000 239300 614749 614207 615716 616025 616809
Reference
  Authors
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
  Title
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
  Journal
Eur J Paediatr Neurol 20:462-73 (2016)
DOI:10.1016/j.ejpn.2016.01.007
Reference
  Authors
Kinoshita T
  Title
Biosynthesis and deficiencies of glycosylphosphatidylinositol.
  Journal
Proc Jpn Acad Ser B Phys Biol Sci 90:130-43 (2014)
DOI:10.2183/pjab.90.130
Reference
  Authors
Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA
  Title
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
  Journal
PLoS Genet 10:e1004320 (2014)
DOI:10.1371/journal.pgen.1004320
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