BRWS
MCID: BRT040
MIFTS: 34

Baraitser-Winter Syndrome (BRWS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome

MalaCards integrated aliases for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 12 20 43 36 29 6 15
Fryns-Aftimos Syndrome 20 43 70
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 43 70
Cerebro-Frontofacial Syndrome, Type 3 20 43
Brws 20 43
Cerebrofrontofacial Syndrome Type 3 29
Trigonocephaly Ptosis Coloboma 20
Syndrome, Baraitser-Winter 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0060229
KEGG 36 H02023
ICD10 32 Q87.0
UMLS 70 C1853623 C1855722

Summaries for Baraitser-Winter Syndrome

MedlinePlus Genetics : 43 Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.An unusual facial appearance is the most common characteristic of Baraitser-Winter syndrome. Distinctive facial features can include widely spaced eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and upper lip (philtrum), full cheeks, and a pointed chin.Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal migration, a process by which nerve cells (neurons) move to their proper positions in the developing brain. The most frequent brain abnormality associated with Baraitser-Winter syndrome is pachygyria, which is an area of the brain that has an abnormally smooth surface with fewer folds and grooves. Less commonly, affected individuals have lissencephaly, which is similar to pachygyria but involves the entire brain surface. These structural changes can cause mild to severe intellectual disability, developmental delay, and seizures.Other features of Baraitser-Winter syndrome can include short stature, ear abnormalities and hearing loss, heart defects, presence of an extra (duplicated) thumb, and abnormalities of the kidneys and urinary system. Some affected individuals have limited movement of large joints, such as the elbows and knees, which may be present at birth or develop over time. Rarely, people with Baraitser-Winter syndrome have involuntary muscle tensing (dystonia).

MalaCards based summary : Baraitser-Winter Syndrome, also known as fryns-aftimos syndrome, is related to baraitser-winter cerebrofrontofacial syndrome and baraitser-winter syndrome 2, and has symptoms including seizures An important gene associated with Baraitser-Winter Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Regulation of actin cytoskeleton and Remodeling of Adherens Junctions. Affiliated tissues include brain and myeloid.

Disease Ontology : 12 A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.

KEGG : 36 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.

Related Diseases for Baraitser-Winter Syndrome

Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Diseases related to Baraitser-Winter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 baraitser-winter cerebrofrontofacial syndrome 31.0 ACTG1 ACTB
2 baraitser-winter syndrome 2 11.8
3 baraitser-winter syndrome 1 11.8
4 hypertelorism 10.5
5 ptosis 10.5
6 coloboma of macula 10.4
7 alacrima, achalasia, and mental retardation syndrome 10.4
8 coloboma of iris 10.4
9 pachygyria 10.3
10 silo filler's disease 10.2 POTEF ACTG1
11 band heterotopia 10.2
12 lissencephaly 10.2
13 microcephaly 10.2
14 retinitis pigmentosa 23 10.2 POTEF ACTG1 ACTB
15 cataract 4, multiple types 10.2 POTEF ACTG1 ACTB
16 deafness, autosomal recessive 83 10.1 SLC26A4 CDH23
17 autosomal recessive nonsyndromic deafness 3 10.1 SLC26A4 CDH23
18 noonan syndrome 1 10.1
19 down syndrome 10.1
20 dubowitz syndrome 10.1
21 branchiootic syndrome 1 10.1
22 dystonia, juvenile-onset 10.1
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
24 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
25 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
26 periventricular nodular heterotopia 10.1
27 autosomal recessive disease 10.1
28 autism spectrum disorder 10.1
29 omphalocele 10.1
30 microphthalmia 10.1
31 cystic lymphangioma 10.1
32 polymicrogyria 10.1
33 congenital contractures 10.1
34 pseudo-turner syndrome 10.1
35 deafness, autosomal recessive 7 10.0 SLC26A4 CDH23
36 deafness, autosomal recessive 77 10.0 SLC26A4 CDH23
37 deafness, autosomal dominant 41 10.0 SLC26A4 CDH23
38 deafness, autosomal dominant 6 10.0 SLC26A4 CDH23
39 deafness, autosomal dominant 20 10.0 SLC26A4 CDH23 ACTG1
40 deafness, autosomal dominant 36 10.0 SLC26A4 CDH23
41 autosomal dominant nonsyndromic deafness 9.9 SLC26A4 CDH23 ACTG1
42 vestibular disease 9.9 SLC26A4 CDH23
43 deafness, autosomal recessive 2 9.9 SLC26A4 CDH23
44 hereditary hearing loss and deafness 9.9 CDH23 ACTG1

Graphical network of the top 20 diseases related to Baraitser-Winter Syndrome:



Diseases related to Baraitser-Winter Syndrome

Symptoms & Phenotypes for Baraitser-Winter Syndrome

UMLS symptoms related to Baraitser-Winter Syndrome:


seizures

Drugs & Therapeutics for Baraitser-Winter Syndrome

Search Clinical Trials , NIH Clinical Center for Baraitser-Winter Syndrome

Genetic Tests for Baraitser-Winter Syndrome

Genetic tests related to Baraitser-Winter Syndrome:

# Genetic test Affiliating Genes
1 Baraitser-Winter Syndrome 29
2 Cerebrofrontofacial Syndrome Type 3 29

Anatomical Context for Baraitser-Winter Syndrome

MalaCards organs/tissues related to Baraitser-Winter Syndrome:

40
Brain, Myeloid

Publications for Baraitser-Winter Syndrome

Articles related to Baraitser-Winter Syndrome:

(show all 30)
# Title Authors PMID Year
1
Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing. 61
32588558 2020
2
[Baraitser-Winter syndrome caused by ACTB gene variation]. 61
32234145 2020
3
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. 61
30472488 2019
4
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review. 61
30733661 2019
5
Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome. 61
32082808 2018
6
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. 61
29388391 2018
7
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. 61
29351919 2018
8
New ocular finding in Baraitser-Winter syndrome (BWS). 61
29024830 2018
9
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. 61
29220674 2017
10
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. 61
28493397 2017
11
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. 61
28496999 2017
12
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. 61
27096712 2017
13
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 61
27868373 2017
14
Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation. 61
27862284 2017
15
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. 61
27633570 2016
16
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. 61
26275891 2015
17
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 61
25156961 2015
18
Rare ACTG1 variants in fetal microlissencephaly. 61
26188271 2015
19
Baraitser and Winter syndrome with growth hormone deficiency. 61
25624931 2014
20
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 61
23756437 2014
21
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. 61
24211661 2014
22
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 61
23649928 2013
23
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 61
22366783 2012
24
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. 61
19477093 2010
25
Fryns-Aftimos syndrome with milder clinical manifestations. 61
19449464 2009
26
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. 61
16414535 2005
27
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. 61
15794188 2005
28
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. 61
14681753 2003
29
Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. 61
9220194 1997
30
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? 61
8320709 1993

Variations for Baraitser-Winter Syndrome

ClinVar genetic disease variations for Baraitser-Winter Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTB NM_001101.5(ACTB):c.609G>A (p.Thr203=) SNV Uncertain significance 641771 rs148292298 GRCh37: 7:5568105-5568105
GRCh38: 7:5528474-5528474
2 ACTB NM_001101.5(ACTB):c.943_945del (p.Lys315del) Deletion Uncertain significance 644089 rs1584261482 GRCh37: 7:5567674-5567676
GRCh38: 7:5528043-5528045
3 ACTB NM_001101.5(ACTB):c.27C>A (p.Val9=) SNV Uncertain significance 657464 rs1240714871 GRCh37: 7:5569262-5569262
GRCh38: 7:5529631-5529631
4 ACTB NM_001101.5(ACTB):c.1078dup (p.Gln360fs) Duplication Uncertain significance 561721 rs1562718649 GRCh37: 7:5567428-5567429
GRCh38: 7:5527797-5527798
5 ACTB NM_001101.5(ACTB):c.307G>C (p.Val103Leu) SNV Uncertain significance 127165 rs587779772 GRCh37: 7:5568848-5568848
GRCh38: 7:5529217-5529217

Expression for Baraitser-Winter Syndrome

Search GEO for disease gene expression data for Baraitser-Winter Syndrome.

Pathways for Baraitser-Winter Syndrome

Pathways related to Baraitser-Winter Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

Pathways related to Baraitser-Winter Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 TUBG1 ACTG1 ACTB
2
Show member pathways
10.83 TUBG1 ACTG1 ACTB
3 10.69 ACTG1 ACTB
4 10.23 ACTG1 ACTB

GO Terms for Baraitser-Winter Syndrome

Cellular components related to Baraitser-Winter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.54 POTEF ACTG1 ACTB
2 apical junction complex GO:0043296 9.32 ACTG1 ACTB
3 NuA4 histone acetyltransferase complex GO:0035267 9.26 ACTL6B ACTB
4 calyx of Held GO:0044305 9.16 ACTG1 ACTB
5 postsynaptic actin cytoskeleton GO:0098871 8.96 ACTG1 ACTB
6 dense body GO:0097433 8.62 ACTG1 ACTB

Biological processes related to Baraitser-Winter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 maintenance of permeability of blood-brain barrier GO:0035633 9.32 ACTG1 ACTB
2 cell junction assembly GO:0034329 9.26 ACTG1 ACTB
3 postsynaptic actin cytoskeleton organization GO:0098974 9.16 ACTG1 ACTB
4 morphogenesis of a polarized epithelium GO:0001738 8.96 ACTG1 ACTB
5 retina homeostasis GO:0001895 8.8 POTEF ACTG1 ACTB

Molecular functions related to Baraitser-Winter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of postsynaptic actin cytoskeleton GO:0098973 8.96 ACTG1 ACTB
2 structural constituent of cytoskeleton GO:0005200 8.92 TUBG1 ACTL6B ACTG1 ACTB

Sources for Baraitser-Winter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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