BRWS
MCID: BRT040
MIFTS: 34

Baraitser-Winter Syndrome (BRWS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome

MalaCards integrated aliases for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 12 54 26 38 15
Fryns-Aftimos Syndrome 54 26 74
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 26 74
Cerebro-Frontofacial Syndrome, Type 3 54 26
Brws 54 26
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 54
Trigonocephaly Ptosis Mental Retardation 54
Trigonocephaly Ptosis Coloboma 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0060229
KEGG 38 H02023
ICD10 34 Q87.0

Summaries for Baraitser-Winter Syndrome

Disease Ontology : 12 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 2 and hypertelorism, and has symptoms including seizures An important gene associated with Baraitser-Winter Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Regulation of actin cytoskeleton and Cytoskeletal Signaling. Affiliated tissues include brain, and related phenotypes are mortality/aging and hearing/vestibular/ear

Genetics Home Reference : 26 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

Graphical network of the top 20 diseases related to Baraitser-Winter Syndrome:



Diseases related to Baraitser-Winter Syndrome

Symptoms & Phenotypes for Baraitser-Winter Syndrome

UMLS symptoms related to Baraitser-Winter Syndrome:


seizures

MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 ACTB ACTG1 BAZ1A DYRK1A FSCN1 GABRD
2 hearing/vestibular/ear MP:0005377 9.55 ACTB ACTG1 FSCN2 GABRD PTPN11
3 nervous system MP:0003631 9.28 ACTB ACTG1 DYRK1A FSCN2 GABRD LIG3

Drugs & Therapeutics for Baraitser-Winter Syndrome

Search Clinical Trials , NIH Clinical Center for Baraitser-Winter Syndrome

Genetic Tests for Baraitser-Winter Syndrome

Anatomical Context for Baraitser-Winter Syndrome

MalaCards organs/tissues related to Baraitser-Winter Syndrome:

42
Brain

Publications for Baraitser-Winter Syndrome

Articles related to Baraitser-Winter Syndrome:

(show all 12)
# Title Authors Year
1
New ocular finding in Baraitser-Winter syndrome (BWS). ( 29024830 )
2018
2
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. ( 28496999 )
2017
3
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. ( 27096712 )
2016
4
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome. ( 24211661 )
2014
5
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. ( 23756437 )
2014
6
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. ( 23649928 )
2013
7
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. ( 22366783 )
2012
8
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
9
Fryns-Aftimos syndrome with milder clinical manifestations. ( 19449464 )
2009
10
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. ( 16414535 )
2005
11
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. ( 14681753 )
2003
12
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? ( 8320709 )
1993

Variations for Baraitser-Winter Syndrome

Expression for Baraitser-Winter Syndrome

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

Pathways for Baraitser-Winter Syndrome

Pathways related to Baraitser-Winter Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

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

# Super pathways Score Top Affiliating Genes
1 11.75 ACTB ACTG1 FSCN1 TWF1
2 10.83 ACTB ACTG1
3 10.69 ACTB ACTG1
4 10.43 ACTB ACTG1
5 10.4 ACTB ACTG1 PTPN11

GO Terms for Baraitser-Winter Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.7 ACTB ACTG1 DYRK1A FSCN1 FSCN2 SPECC1L
2 blood microparticle GO:0072562 9.43 ACTB ACTG1 POTEF
3 filamentous actin GO:0031941 9.32 ACTG1 SPECC1L
4 actin cytoskeleton GO:0015629 9.1 ACTB ACTG1 FSCN1 FSCN2 SPECC1L TWF1
5 dense body GO:0097433 8.96 ACTB ACTG1

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

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.58 FSCN1 FSCN2 SPECC1L
2 regulation of intracellular pH GO:0051453 9.43 SLC9A6 SLC9A7
3 cell motility GO:0048870 9.37 ACTB FSCN1
4 regulation of pH GO:0006885 9.32 SLC9A6 SLC9A7
5 cell junction assembly GO:0034329 9.26 ACTB ACTG1
6 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A6 SLC9A7
7 ephrin receptor signaling pathway GO:0048013 9.13 ACTB ACTG1 PTPN11
8 retina homeostasis GO:0001895 8.8 ACTB ACTG1 POTEF

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

# Name GO ID Score Top Affiliating Genes
1 solute:proton antiporter activity GO:0015299 9.16 SLC9A6 SLC9A7
2 sodium:proton antiporter activity GO:0015385 8.96 SLC9A6 SLC9A7
3 potassium:proton antiporter activity GO:0015386 8.62 SLC9A6 SLC9A7

Sources for Baraitser-Winter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....