KEGG   DISEASE: Autosomal recessive mental retardation-42Help
Entry
H01485                      Disease                                

Name
Autosomal recessive mental retardation-42
  Supergrp
Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
Description
Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy. Homozygous mutation in PGAP1 has been identified.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01485  Autosomal recessive mental retardation-42
BRITE hierarchy
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018  GPI-anchor biosynthesis
  Element
N00749  PGAP1 deficiency in GPI-anchor biosynthesis
Gene
PGAP1 [HSA:80055] [KO:K05294]
Other DBs
OMIM: 615802
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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