KEGG   DISEASE: Neurodevelopmental disorder with or without variable brain abnormalities
Entry
H02862                      Disease                                
Name
Neurodevelopmental disorder with or without variable brain abnormalities
Description
Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) is caused by heterozygous mutations in the MAPK8IP3 gene and is characterized by developmental delay and/or intellectual disability with variable brain anomalies such as perisylvian polymicrogyria, as well as cerebral and cerebellar atrophy.
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
   H02862  Neurodevelopmental disorder with or without variable brain abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H02862  Neurodevelopmental disorder with or without variable brain abnormalities
Pathway
hsa04010  MAPK signaling pathway
Network
nt06541 Cytoskeleton in neurons
Gene
MAPK8IP3 [HSA:23162] [KO:K04436]
Other DBs
ICD-11: LD90.Y
OMIM: 618443
Reference
PMID:30612693
  Authors
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R
  Title
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
  Journal
Am J Hum Genet 104:203-212 (2019)
DOI:10.1016/j.ajhg.2018.12.008
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