KEGG   DISEASE: Neurodevelopmental disorder with language impairment and behavioral abnormalities
Entry
H02887                      Disease                                
Name
Neurodevelopmental disorder with language impairment and behavioral abnormalities
  Supergrp
Neurodevelopmental disorder with glutamatergic synapse dysfunction [DS:H02705]
Description
Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) is characterized by intellectual disability and neurodevelopmental abnormalities, including autism spectrum disorder, Rett syndrome-like features, and seizures or developmental epileptic encephalopathy. Mutations in AMPA receptor GluA2 subunit have been reported to cause this disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02887  Neurodevelopmental disorder with language impairment and behavioral abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02887  Neurodevelopmental disorder with language impairment and behavioral abnormalities
Pathway
hsa04724  Glutamatergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06544 Neuroactive ligand signaling
Gene
GRIA2 [HSA:2891] [KO:K05198]
Other DBs
ICD-11: LD90.Y
OMIM: 618917
Reference
  Authors
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H
  Title
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
  Journal
Nat Commun 10:3094 (2019)
DOI:10.1038/s41467-019-10910-w
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