KEGG   DISEASE: Neurodevelopmental disorder with infantile epileptic spasms
Entry
H02892                      Disease                                
Name
Neurodevelopmental disorder with infantile epileptic spasms
Description
Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) is characterized by variable degrees of developmental delay, intellectual disability, and seizures. Mutations in the NCDN gene, encoding neurochondrin which is an adaptor protein for G-coupled receptors, have been associated with 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
   H02892  Neurodevelopmental disorder with infantile epileptic spasms
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02892  Neurodevelopmental disorder with infantile epileptic spasms
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544 Neuroactive ligand signaling
Gene
NCDN [HSA:23154] [KO:K27819]
Other DBs
ICD-11: LD90.Y
OMIM: 619373
Reference
PMID:33711248
  Authors
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-Lopez C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N
  Title
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
  Journal
Am J Hum Genet 108:739-748 (2021)
DOI:10.1016/j.ajhg.2021.02.015
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