KEGG   DISEASE: Chilton-Okur-Chung neurodevelopmental syndrome
Entry
H02666                      Disease                                
Name
Chilton-Okur-Chung neurodevelopmental syndrome
Description
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is associated with developmental delay, intellectual disability, autism, hypotonia, and structural brain abnormalities. It has been reported that mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB), which plays an important role in the regulation of cytoskeletal reorganization and cell migration.
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
   H02666  Chilton-Okur-Chung neurodevelopmental syndrome
Gene
CDC42BPB [HSA:9578] [KO:K16307]
Other DBs
ICD-11: LD90.Y
ICD-10: F78.9
OMIM: 619841
Reference
PMID:32031333
  Authors
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Heron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK
  Title
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
  Journal
Am J Med Genet A 182:962-973 (2020)
DOI:10.1002/ajmg.a.61505
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