BRWS
MCID: BRT040
MIFTS: 29

Baraitser-Winter Syndrome (BRWS) malady

Neuronal category

Summaries for Baraitser-Winter Syndrome

Sources:
21Genetics Home Reference, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 progeria - short stature - pigmented nevi and baraitser-winter syndrome 1. An important gene associated with Baraitser-Winter Syndrome is ACTG1 (actin, gamma 1), and among its related pathways are Leukocyte transendothelial migration and SMAD Signaling Network. The compounds thymosin beta4 and ck 666 have been mentioned in the context of this disorder. Affiliated tissues include brain.

Aliases & Classifications for Baraitser-Winter Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS, 22GTR
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

baraitser-winter syndrome 43 21
fryns-aftimos syndrome 43 21 61
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
progeria short stature pigmented nevi 61
trigonocephaly ptosis coloboma 43


Related Diseases for Baraitser-Winter Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Clinical Features for Baraitser-Winter Syndrome

Drugs & Therapeutics for Baraitser-Winter Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Baraitser-Winter Syndrome:

33
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Baraitser-Winter Syndrome

Sources:
51PubMed
See all sources

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

Genetic Variations for Baraitser-Winter Syndrome

Expression for genes affiliated with Baraitser-Winter Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore
See all sources

Pathways related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ACTG1, ACTB
29.1ACTG1, ACTB
3
Hide members
9.1ACTG1, ACTB
4
Hide members
9.1ACTB, ACTG1
5
Hide members
9.1ACTG1, ACTB
69.1ACTG1, ACTB
7
Hide members
9.1ACTB, ACTG1
89.1ACTB, ACTG1
9
Hide members
9.1ACTB, ACTG1
109.1ACTG1, ACTB
11
Hide members
9.1ACTG1, ACTB
129.1ACTG1, ACTB
13
Hide members
9.1ACTG1, ACTB
14
Hide members
9.1ACTG1, ACTB
15
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.1ACTB, ACTG1
169.1ACTG1, ACTB
17
Hide members
9.1ACTB, ACTG1
18
Hide members
9.1ACTG1, ACTB
199.1ACTG1, ACTB
209.1ACTG1, ACTB
219.1ACTB, ACTG1
229.1ACTB, ACTG1
23
Immune response CCR3 signaling in eosinophils
Hide members
9.1ACTG1, ACTB
249.1ACTG1, ACTB
25
Cytoskeleton remodeling Reverse signaling by ephrin B
Hide members
9.1ACTB, ACTG1
269.1ACTG1, ACTB
279.1ACTB, ACTG1
289.1ACTB, ACTG1
299.1ACTG1, ACTB
309.1ACTG1, ACTB
31
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
Hide members
9.1ACTG1, ACTB
32
Hide members
9.1ACTB, ACTG1
339.1ACTG1, ACTB
34
Hide members
9.1ACTG1, ACTB
359.1ACTB, ACTG1
36
Hide members
9.1ACTB, ACTG1
379.1ACTG1, ACTB
38
Hide members
9.1ACTB, ACTG1
39
Hide members
9.1ACTG1, ACTB
409.1ACTG1, ACTB
419.1ACTB, ACTG1
429.1ACTG1, ACTB
43
Development Slit-Robo signaling
Hide members
9.1ACTG1, ACTB
44
Cell adhesion Gap junctions
Hide members
9.1ACTG1, ACTB
45
Cytoskeleton remodeling CDC42 in cellular processes
Hide members
9.1ACTB, ACTG1
46
Hide members
9.1ACTG1, ACTB
479.1ACTB, ACTG1
489.1ACTG1, ACTB
499.1ACTG1, ACTB
50
Hide members
9.1ACTB, ACTG1

Compounds for genes affiliated with Baraitser-Winter Syndrome

Sources:
60Tocris Bioscience, 11DrugBank, 45Novoseek
See all sources

Compounds related to Baraitser-Winter Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1thymosin beta4609.2ACTB, ACTG1
2ck 666609.2ACTB, ACTG1
3latrunculin a60 1110.1ACTB, ACTG1
4cytochalasin d45 6010.1ACTB, ACTG1
5actb459.0ACTB, ACTG1
6jasplakinolide45 609.8ACTB, ACTG1

GO Terms for genes affiliated with Baraitser-Winter Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:0058569.1ACTG1, ACTB
2extracellular vesicular exosomeGO:0700628.8ACTG1, ACTB

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

idNameGO IDScoreTop Affiliating Genes
1adherens junction organizationGO:0343329.2ACTG1, ACTB
2cell-cell junction organizationGO:0452169.2ACTG1, ACTB
3cell junction assemblyGO:0343299.1ACTG1, ACTB
4axon guidanceGO:0074119.1ACTB, ACTG1
5Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.0ACTG1, ACTB
6cellular component movementGO:0069288.8ACTB, ACTG1

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Baraitser-Winter Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet