KEGG   DISEASE: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Entry
H02863                      Disease                                
Name
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Description
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) is a neurodevelopmental syndrome caused by heterozygous mutations in the RAB11B gene. This gene is one of three members of the Rab11 GTPase subfamily. The mutations alter GDP/GTP binding, inactivating the protein and inducing guanine nucleotide exchange factor (GEF) binding, which leads to protein mislocalization.
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
   H02863  Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H02863  Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Network
nt06541 Cytoskeleton in neurons
Gene
RAB11B [HSA:9230] [KO:K07905]
Other DBs
ICD-11: LD90.Y
OMIM: 617807
Reference
PMID:29106825
  Authors
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R
  Title
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
  Journal
Am J Hum Genet 101:824-832 (2017)
DOI:10.1016/j.ajhg.2017.09.015
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