KEGG   DISEASE: Baraitser-Winter syndrome
Entry
H02023                      Disease                                
Name
Baraitser-Winter syndrome
Description
Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02023  Baraitser-Winter syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02023  Baraitser-Winter syndrome
  nt06541  Cytoskeleton in neurons
   H02023  Baraitser-Winter syndrome
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa04810  Regulation of actin cytoskeleton
hsa04510  Focal adhesion
Network
nt06539 Cytoskeleton in muscle cells
nt06541 Cytoskeleton in neurons
Gene
(BRWS1) ACTB [HSA:60] [KO:K05692]
(BRWS2) ACTG1 [HSA:71] [KO:K05692]
Other DBs
ICD-11: LD2F.1Y
MeSH: C565462
OMIM: 243310 614583
Reference
  Authors
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenco CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Riviere JB, Dobyns WB, Pilz DT
  Title
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
  Journal
Eur J Hum Genet 23:292-301 (2015)
DOI:10.1038/ejhg.2014.95
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