KEGG   DISEASE: Snijders Blok-Fisher syndrome
Entry
H02387                      Disease                                
Name
Snijders Blok-Fisher syndrome
Description
Snijders Blok-Fisher syndrome (SNIBFIS)  is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A0Y  Other specified neurodevelopmental disorders
    H02387  Snijders Blok-Fisher syndrome
Gene
POU3F3 [HSA:5455] [KO:K09365]
Other DBs
ICD-11: 6A0Y
OMIM: 618604
Reference
PMID:31303265
  Authors
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Ounap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE
  Title
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
  Journal
Am J Hum Genet 105:403-412 (2019)
DOI:10.1016/j.ajhg.2019.06.007
LinkDB

» Japanese version

DBGET integrated database retrieval system