MCID: BRT040
MIFTS: 36

Baraitser-Winter Syndrome

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

Aliases & Classifications for Baraitser-Winter Syndrome

MalaCards integrated aliases for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 12 49 24 36 14
Fryns-Aftimos Syndrome 49 24 69
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 24 69
Cerebro-Frontofacial Syndrome, Type 3 49 24
Brws 49 24
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 49
Trigonocephaly Ptosis Mental Retardation 49
Trigonocephaly Ptosis Coloboma 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0060229
ICD10 32 Q87.0
KEGG 36 H02023

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 baraitser-winter syndrome 1, 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain, and related phenotypes are behavior/neurological and embryo

Genetics Home Reference : 24 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ACTB ACTG1 BAZ1A COL2A1 DYRK1A GABRD
2 embryo MP:0005380 9.8 ACTB COL2A1 DYRK1A FSCN1 LIG3 NDE1
3 mortality/aging MP:0010768 9.7 ACTB ACTG1 BAZ1A COL2A1 DYRK1A FSCN1
4 hearing/vestibular/ear MP:0005377 9.55 GABRD PTPN11 ACTB ACTG1 COL2A1
5 nervous system MP:0003631 9.32 COL2A1 DYRK1A GABRD GJC2 LIG3 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:

38
Brain

Publications for Baraitser-Winter Syndrome

Articles related to Baraitser-Winter Syndrome:

(show all 11)
# 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
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. ( 16414535 )
2005
10
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. ( 14681753 )
2003
11
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:

36
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

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 9.73 ACTB ACTG1 DYRK1A FSCN1 NDE1 TWF1
2 actin cytoskeleton GO:0015629 9.46 ACTB ACTG1 FSCN1 TWF1
3 filamentous actin GO:0031941 9.32 ACTG1 FSCN1
4 dense body GO:0097433 8.96 ACTB ACTG1
5 myelin sheath GO:0043209 8.92 ACTB ACTG1 FSCN1 GJC2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of pH GO:0006885 9.32 SLC9A6 SLC9A7
2 cell junction assembly GO:0034329 9.26 ACTB ACTG1
3 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A6 SLC9A7
4 ephrin receptor signaling pathway GO:0048013 9.13 ACTB ACTG1 PTPN11
5 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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