BRWS
MCID: BRT040
MIFTS: 34

Baraitser-Winter Syndrome (BRWS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Eye diseases, Fetal diseases categories
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Summaries for Baraitser-Winter Syndrome

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Baraitser-Winter syndrome is a condition that affects the development of many parts of the body, particularly the face and the brain.

MalaCards: Baraitser-Winter Syndrome, also known as fryns-aftimos syndrome, is related to baraitser-winter syndrome 1 and baraitser-winter syndrome 2. An important gene associated with Baraitser-Winter Syndrome is ACTG1 (actin, gamma 1), and among its related pathways are Phagosome and Hippo signaling pathway. The compounds ck 666 and thymosin beta4 have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Baraitser-Winter Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 22GTR
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Classifications:



Aliases & Descriptions:

baraitser-winter syndrome 43 21
fryns-aftimos syndrome 43 21 62
iris coloboma with ptosis hypertelorism and mental retardation 43 22
cerebro-frontofacial syndrome, type 3 43 21
brws 43 21
iris coloboma with ptosis, hypertelorism, and mental retardation 21
trigonocephaly ptosis mental retardation 43
progeria short stature pigmented nevi 62
trigonocephaly ptosis coloboma 43


Related Diseases for Baraitser-Winter Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Baraitser-Winter Syndrome 1 family:

baraitser-winter syndrome Baraitser-Winter Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1baraitser-winter syndrome 131.0ACTB
2baraitser-winter syndrome 210.6
3coloboma10.3
4noonan syndrome10.3
5polymicrogyria10.3
6pachygyria10.3
7subcortical band heterotopia10.3
8mental retardation10.3
9periventricular heterotopia10.3
10vascular disease10.0ACTG1, ACTB

Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Symptoms for Baraitser-Winter Syndrome

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Drugs & Therapeutics for Baraitser-Winter Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Baraitser-Winter Syndrome

Search NIH Clinical Center for Baraitser-Winter Syndrome

Genetic Tests for Baraitser-Winter Syndrome

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22GTR
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Genetic tests related to Baraitser-Winter Syndrome:

id Genetic test Affiliating Genes
1 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation22

Anatomical Context for Baraitser-Winter Syndrome

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33MalaCards
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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

33
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACTG1, ACTB

Publications for Baraitser-Winter Syndrome

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52PubMed
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Articles related to Baraitser-Winter Syndrome:

idTitleAuthorsYear
1
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome. (24211661)
2014
2
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. (23756437)
2014
3
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. (23649928)
2013
4
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (22366783)
2012
5
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (19477093)
2010
6
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. (16414535)
2005
7
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. (14681753)
2003
8
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? (8320709)
1993

Variations for Baraitser-Winter Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Baraitser-Winter Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACTBNM_001101.3(ACTB): c.587G> A (p.Arg196His)single nucleotide variantPathogenicrs281875334GRCh37Chr 7, 5568127: 5568127
2ACTBNM_001101.3(ACTB): c.586C> T (p.Arg196Cys)single nucleotide variantPathogenicrs281875333GRCh37Chr 7, 5568128: 5568128
3ACTBNM_001101.3(ACTB): c.193C> G (p.Leu65Val)single nucleotide variantPathogenicrs281875332GRCh37Chr 7, 5568962: 5568962
4ACTBNM_001101.3(ACTB): c.34A> G (p.Asn12Asp)single nucleotide variantPathogenicrs281875331GRCh37Chr 7, 5569255: 5569255
5ACTBNM_001101.3(ACTB): c.349G> A (p.Glu117Lys)single nucleotide variantPathogenicrs397515470GRCh37Chr 7, 5568806: 5568806

Expression for genes affiliated with Baraitser-Winter Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Baraitser-Winter Syndrome

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

Pathways for genes affiliated with Baraitser-Winter Syndrome

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Sources:
50PathCards, 30KEGG, 53QIAGEN, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 12EMD Millipore, 5Cell Signaling Technology, 61Tocris Bioscience
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Pathways related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ACTB, ACTG1
29.1ACTB, ACTG1
3
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
9.1ACTB, ACTG1
4
Show member pathways
9.1ACTB, ACTG1
5
Show member pathways
9.1ACTG1, ACTB
6
Show member pathways
9.1ACTG1, ACTB
7
Show member pathways
9.1ACTB, ACTG1
8
Show member pathways
9.1ACTG1, ACTB
9
Show member pathways
9.1ACTG1, ACTB
10
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
9.1ACTG1, ACTB
119.1ACTB, ACTG1
12
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1ACTB, ACTG1
13
Show member pathways
Immune response CD16 signaling in NK cells60
9.1ACTG1, ACTB
14
Show member pathways
9.1ACTB, ACTG1
159.1ACTG1, ACTB
16
Show member pathways
9.1ACTG1, ACTB
179.1ACTB, ACTG1
18
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1ACTB, ACTG1
19
Show member pathways
9.1ACTG1, ACTB
20
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1ACTB, ACTG1
21
Show member pathways
9.1ACTG1, ACTB
22
Show member pathways
9.1ACTG1, ACTB
23
Show member pathways
Calcium Regulation in the Cardiac Cell38
9.1ACTB, ACTG1
24
Show member pathways
9.1ACTG1, ACTB
25
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection38
9.1ACTG1, ACTB
269.1ACTB, ACTG1
279.1ACTG1, ACTB
289.1ACTG1, ACTB
299.1ACTB, ACTG1
30
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes60
9.1ACTB, ACTG1
319.1ACTB, ACTG1
329.1ACTG1, ACTB
339.1ACTB, ACTG1
34
Show member pathways
9.1ACTG1, ACTB
359.1ACTG1, ACTB
369.1ACTB, ACTG1
379.1ACTB, ACTG1
389.1ACTG1, ACTB
399.1ACTG1, ACTB
409.1ACTB, ACTG1
41
Show member pathways
9.1ACTG1, ACTB
429.1ACTB, ACTG1
43
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1ACTB, ACTG1
44
Show member pathways
9.1ACTB, ACTG1
459.1ACTB, ACTG1
46
Show member pathways
9.1ACTG1, ACTB
479.1ACTG1, ACTB
48
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.1ACTB, ACTG1
49
Show member pathways
9.1ACTB, ACTG1
509.1ACTB, ACTG1

Compounds for genes affiliated with Baraitser-Winter Syndrome

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61Tocris Bioscience, 11DrugBank, 45Novoseek
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Compounds related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ck 666619.2ACTG1, ACTB
2thymosin beta4619.2ACTG1, ACTB
3latrunculin a61 1110.1ACTG1, ACTB
4cytochalasin d45 6110.1ACTG1, ACTB
5actb459.0ACTB, ACTG1
6jasplakinolide45 619.8ACTG1, ACTB

GO Terms for genes affiliated with Baraitser-Winter Syndrome

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16Gene Ontology
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Cellular components related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:0058569.1ACTG1, ACTB
2blood microparticleGO:0725628.8ACTG1, ACTB

Biological processes related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:0018959.3ACTG1, ACTB
2adherens junction organizationGO:0343329.3ACTG1, ACTB
3cell-cell junction organizationGO:0452169.3ACTG1, ACTB
4cell junction assemblyGO:0343299.2ACTG1, ACTB
5Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.2ACTB, ACTG1
6cellular component movementGO:0069289.1ACTG1, ACTB
7innate immune responseGO:0450879.1ACTG1, ACTB
8membrane organizationGO:0610249.0ACTG1, ACTB
9axon guidanceGO:0074118.8ACTG1, ACTB

Molecular functions related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.1ACTG1, ACTB

Products for genes affiliated with Baraitser-Winter Syndrome

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Sources for Baraitser-Winter Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet