BRWS
MCID: BRT040
MIFTS: 34

Baraitser-Winter Syndrome (BRWS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Eye diseases, Fetal diseases categories

Summaries for Baraitser-Winter Syndrome

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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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44NIH Rare Diseases, 22Genetics Home Reference, 63UMLS, 23GTR
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Classifications:



Aliases & Descriptions:

baraitser-winter syndrome 44 22
fryns-aftimos syndrome 44 22 63
iris coloboma with ptosis hypertelorism and mental retardation 44 23
cerebro-frontofacial syndrome, type 3 44 22
brws 44 22
iris coloboma with ptosis, hypertelorism, and mental retardation 22
trigonocephaly ptosis mental retardation 44
progeria short stature pigmented nevi 63
trigonocephaly ptosis coloboma 44


Related Diseases for Baraitser-Winter Syndrome

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Baraitser-Winter Syndrome

Drug clinical trials:

Search ClinicalTrials for Baraitser-Winter Syndrome

Search NIH Clinical Center for Baraitser-Winter Syndrome

Search CenterWatch for Baraitser-Winter Syndrome

Genetic Tests for Baraitser-Winter Syndrome

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23GTR
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Genetic tests related to Baraitser-Winter Syndrome:

id Genetic test Affiliating Genes
1 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation23

Anatomical Context for Baraitser-Winter Syndrome

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34MalaCards
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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

34
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACTG1, ACTB

Publications for Baraitser-Winter Syndrome

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53PubMed
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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, 16Gene 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:
51PathCards, 31KEGG, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 13EMD Millipore, 5Cell Signaling Technology, 62Tocris 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 pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
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 B61
9.1ACTG1, ACTB
119.1ACTB, ACTG1
12
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.1ACTB, ACTG1
13
Show member pathways
Immune response CD16 signaling in NK cells61
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 adhesion39
Focal Adhesion39
9.1ACTB, ACTG1
19
Show member pathways
9.1ACTG1, ACTB
20
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
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 Cell39
9.1ACTB, ACTG1
24
Show member pathways
9.1ACTG1, ACTB
25
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion61
Pathogenic Escherichia coli infection39
9.1ACTG1, ACTB
269.1ACTB, ACTG1
279.1ACTG1, ACTB
289.1ACTG1, ACTB
299.1ACTB, ACTG1
30
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes61
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 cardiomyopathy39
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 Neurofilaments61
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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62Tocris Bioscience, 12DrugBank, 46Novoseek
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Compounds related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ck 666629.2ACTG1, ACTB
2thymosin beta4629.2ACTG1, ACTB
3latrunculin a62 1210.1ACTG1, ACTB
4cytochalasin d46 6210.1ACTG1, ACTB
5actb469.0ACTB, ACTG1
6jasplakinolide46 629.8ACTG1, ACTB

GO Terms for genes affiliated with Baraitser-Winter Syndrome

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet