KEGG DISEASE: Baraitser-Winter syndrome

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

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa04810

Regulation of actin cytoskeleton

hsa04510

Focal adhesion

Network

nt06539 Cytoskeleton in muscle cells

Gene

(BRWS1) ACTB [HSA:60] [KO:K05692]
(BRWS2) ACTG1 [HSA:71] [KO:K05692]

Other DBs

ICD-11:

LD2F.1Y

ICD-10:

Q87.0

OMIM:

243310 614583

Reference

PMID:25052316

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

LinkDB

» Japanese version

DISEASE: Juvenile-onset dystonia

Entry

H01255                      Disease

Name

Juvenile-onset dystonia;
Dystonia-deafness syndrome 1

Description

Juvenile-onset dystonia, also known as Dystonia-deafness syndrome 1 (DDS1), is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.