BRWS
MCID: BRT040
MIFTS: 31

Baraitser-Winter Syndrome (BRWS) malady

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

Aliases & Classifications for Baraitser-Winter Syndrome

Aliases & Descriptions for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 12 50 25 14
Fryns-Aftimos Syndrome 50 25 69
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 25 69
Cerebro-Frontofacial Syndrome, Type 3 50 25
Brws 50 25
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 50
Trigonocephaly Ptosis Mental Retardation 50
Trigonocephaly Ptosis Coloboma 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060229
ICD10 33 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 1 and baraitser-winter syndrome 2, 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Proteoglycans in cancer. Affiliated tissues include brain, and related phenotypes are embryo and hearing/vestibular/ear

Genetics Home Reference : 25 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.63 ACTB COL2A1 DYRK1A FSCN1 NDE1 PTPN11
2 hearing/vestibular/ear MP:0005377 9.35 ACTB ACTG1 COL2A1 GABRD PTPN11
3 nervous system MP:0003631 9.23 ACTG1 COL2A1 DYRK1A GABRD GJC2 NDE1

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:

39
Brain

Publications for Baraitser-Winter Syndrome

Articles related to Baraitser-Winter Syndrome:

id Title Authors Year
1
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. ( 27096712 )
2016
2
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. ( 23756437 )
2014
3
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome. ( 24211661 )
2014
4
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. ( 23649928 )
2013
5
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. ( 22366783 )
2012
6
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
7
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. ( 16414535 )
2005
8
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. ( 14681753 )
2003
9
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

GO Terms for Baraitser-Winter Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.5 ACTG1 FSCN1 TWF1
2 blood microparticle GO:0072562 9.43 ACTB ACTG1 POTEF
3 myofibril GO:0030016 9.37 ACTG1 TWF1
4 filamentous actin GO:0031941 9.16 ACTG1 FSCN1
5 dense body GO:0097433 8.96 ACTB ACTG1
6 myelin sheath GO:0043209 8.92 ACTB ACTG1 FSCN1 GJC2

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

id Name GO ID Score Top Affiliating Genes
1 platelet aggregation GO:0070527 9.26 ACTB ACTG1
2 cell junction assembly GO:0034329 9.16 ACTB ACTG1
3 ephrin receptor signaling pathway GO:0048013 9.13 ACTB ACTG1 PTPN11
4 retina homeostasis GO:0001895 8.8 ACTB ACTG1 POTEF

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 ACTB ACTG1 COL2A1 DYRK1A NDE1

Sources for Baraitser-Winter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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