BRWS
MCID: BRT040
MIFTS: 26

Baraitser-Winter Syndrome (BRWS) malady

Neuronal diseases category

Summaries for Baraitser-Winter Syndrome

About this section
Sources:
21Genetics Home Reference, 32MalaCards
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 ck 666 and thymosin beta4 have been mentioned in the context of this disorder. Affiliated tissues include brain.

Aliases & Classifications for Baraitser-Winter Syndrome

About this section
Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 60UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

baraitser-winter syndrome 42 21
fryns-aftimos syndrome 42 21 60
iris coloboma with ptosis hypertelorism and mental retardation 42 22
cerebro-frontofacial syndrome, type 3 42 21
brws 42 21
iris coloboma with ptosis, hypertelorism, and mental retardation 21
progeria short stature pigmented nevi 60
trigonocephaly ptosis coloboma 42


Related Diseases for Baraitser-Winter Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1progeria - short stature - pigmented nevi10.7
2baraitser-winter syndrome 110.6
3baraitser-winter syndrome 210.5
4trigonocephaly ptosis mental retardation10.5
5pachygyria - epilepsy - intellectual deficit - dysmorphism10.5
6pseudo-torch syndrome10.4
7reardon wilson cavanagh syndrome10.4
8barnicoat baraitser syndrome10.4
9epilepsy syndrome10.3
10fryns syndrome10.3
11coloboma10.2
12noonan syndrome10.2
13polymicrogyria10.2
14vascular disease10.0ACTG1, ACTB

Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Clinical Features for Baraitser-Winter Syndrome

About this section

Drugs & Therapeutics for Baraitser-Winter Syndrome

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Baraitser-Winter Syndrome:

32
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

About this section

Publications for Baraitser-Winter Syndrome

About this section

Genetic Variations for Baraitser-Winter Syndrome

About this section

Expression for genes affiliated with Baraitser-Winter Syndrome

About this section
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

About this section
Sources:
29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 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

About this section
Sources:
59Tocris Bioscience, 11DrugBank, 44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1ck 666599.2ACTG1, ACTB
2thymosin beta4599.2ACTG1, ACTB
3latrunculin a59 1110.1ACTG1, ACTB
4cytochalasin d44 5910.1ACTG1, ACTB
5actb449.0ACTB, ACTG1
6jasplakinolide44 599.8ACTG1, ACTB

GO Terms for genes affiliated with Baraitser-Winter Syndrome

About this section
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:0074119.1ACTG1, ACTB
5Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.0ACTB, ACTG1
6cellular component movementGO:0069288.8ACTG1, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Baraitser-Winter Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet