MCID: BRT040
MIFTS: 31

Baraitser-Winter Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for Baraitser-Winter Syndrome

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Aliases & Descriptions for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 8 42 21
Fryns-Aftimos Syndrome 42 21 61
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 21 22
Cerebro-Frontofacial Syndrome, Type 3 42 21
 
Brws 42 21
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 42
Trigonocephaly Ptosis Mental Retardation 42
Trigonocephaly Ptosis Coloboma 42


Classifications:



External Ids:

Disease Ontology8 DOID:0060229

Summaries for Baraitser-Winter Syndrome

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Disease Ontology:8 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.

MalaCards based summary: 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 ACTB (actin, beta), 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.

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.

Related Diseases for Baraitser-Winter Syndrome

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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:

idRelated DiseaseScoreTop Affiliating Genes
1baraitser-winter syndrome 131.2ACTB
2baraitser-winter syndrome 210.7
3coloboma10.3
4ptosis10.3
5polymicrogyria10.3
6pachygyria10.3
7subcortical band heterotopia10.3
8mental retardation10.3
9vascular disease9.9ACTG1, 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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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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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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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

31
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACTG1, ACTB

Publications for Baraitser-Winter Syndrome

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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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Clinvar genetic disease variations for Baraitser-Winter Syndrome:

5
id Gene Variation 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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Search GEO for disease gene expression data for Baraitser-Winter Syndrome.

Pathways for genes affiliated with Baraitser-Winter Syndrome

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

(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 pathway59
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
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
9.1ACTG1, ACTB
8
Show member pathways
9.1ACTG1, ACTB
9
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B59
9.1ACTG1, ACTB
109.1ACTB, ACTG1
11
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.1ACTB, ACTG1
12
Show member pathways
Immune response CD16 signaling in NK cells59
9.1ACTG1, ACTB
13
Show member pathways
9.1ACTB, ACTG1
149.1ACTG1, ACTB
15
Show member pathways
9.1ACTG1, ACTB
169.1ACTB, ACTG1
17
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.1ACTB, ACTG1
18
Show member pathways
9.1ACTG1, ACTB
19
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1ACTB, ACTG1
20
Show member pathways
9.1ACTG1, ACTB
21
Show member pathways
9.1ACTG1, ACTB
22
Show member pathways
Calcium Regulation in the Cardiac Cell36
9.1ACTB, ACTG1
23
Show member pathways
9.1ACTG1, ACTB
24
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion59
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
9.1ACTG1, ACTB
259.1ACTB, ACTG1
269.1ACTG1, ACTB
279.1ACTG1, ACTB
289.1ACTB, ACTG1
29
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes59
9.1ACTB, ACTG1
309.1ACTB, ACTG1
319.1ACTG1, ACTB
329.1ACTB, ACTG1
33
Show member pathways
9.1ACTG1, ACTB
349.1ACTG1, ACTB
359.1ACTB, ACTG1
369.1ACTB, ACTG1
379.1ACTG1, ACTB
389.1ACTG1, ACTB
399.1ACTB, ACTG1
40
Show member pathways
9.1ACTG1, ACTB
419.1ACTB, ACTG1
42
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.1ACTB, ACTG1
43
Show member pathways
9.1ACTB, ACTG1
449.1ACTB, ACTG1
45
Show member pathways
9.1ACTG1, ACTB
469.1ACTG1, ACTB
47
Show member pathways
9.1ACTB, ACTG1
489.1ACTB, ACTG1

Compounds for genes affiliated with Baraitser-Winter Syndrome

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

idCompoundScoreTop Affiliating Genes
1ck 666609.2ACTG1, ACTB
2thymosin beta4609.2ACTG1, ACTB
3latrunculin a60 1110.1ACTG1, ACTB
4cytochalasin d44 6010.1ACTG1, ACTB
5actb449.0ACTB, ACTG1
6jasplakinolide44 609.8ACTG1, ACTB

GO Terms for genes affiliated with Baraitser-Winter Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.1ACTG1, ACTB
2blood microparticleGO:00725628.8ACTG1, ACTB

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:00018959.3ACTG1, ACTB
2adherens junction organizationGO:00343329.3ACTG1, ACTB
3cell-cell junction organizationGO:00452169.3ACTG1, ACTB
4cell junction assemblyGO:00343299.2ACTG1, ACTB
5Fc-gamma receptor signaling pathway involved in phagocytosisGO:00380969.2ACTB, ACTG1
6cellular component movementGO:00069289.1ACTG1, ACTB
7innate immune responseGO:00450879.1ACTG1, ACTB
8membrane organizationGO:00610249.0ACTG1, ACTB
9axon guidanceGO:00074118.8ACTG1, ACTB

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.1ACTG1, ACTB

Sources for Baraitser-Winter Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet