MCID: BRT040
MIFTS: 32

Baraitser-Winter Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Immune diseases categories

Aliases & Classifications for Baraitser-Winter Syndrome

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Aliases & Descriptions for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 10 45 23 12
Fryns-Aftimos Syndrome 45 23 65
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 23 24
Cerebro-Frontofacial Syndrome, Type 3 45 23
 
Brws 45 23
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 45
Trigonocephaly Ptosis Mental Retardation 45
Trigonocephaly Ptosis Coloboma 45


Classifications:



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Disease Ontology10 DOID:0060229

Summaries for Baraitser-Winter Syndrome

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Disease Ontology:10 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. An important gene associated with Baraitser-Winter Syndrome is ACTB (Actin, Beta), and among its related pathways are Phagosome and Hippo signaling pathway. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear and embryogenesis.

Genetics Home Reference:23 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

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Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Symptoms for Baraitser-Winter Syndrome

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Drugs & Therapeutics for Baraitser-Winter Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Baraitser-Winter Syndrome

Genetic Tests for Baraitser-Winter Syndrome

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Genetic tests related to Baraitser-Winter Syndrome:

id Genetic test Affiliating Genes
1 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation24

Anatomical Context for Baraitser-Winter Syndrome

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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

33
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2ACTB, ACTG1, COL2A1, GABRD, PTPN11
2MP:00053807.9ACTB, COL2A1, DYRK1A, NDE1, PTPN11
3MP:00107686.9ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2
4MP:00036316.6ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2

Publications for Baraitser-Winter Syndrome

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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

Variations for Baraitser-Winter Syndrome

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Expression for genes affiliated with Baraitser-Winter Syndrome

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

Pathways for genes affiliated with Baraitser-Winter Syndrome

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

(show top 50)    (show all 51)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ACTB, ACTG1, POTEF
29.3ACTB, ACTG1, POTEF
3
Show member pathways
9.3ACTB, ACTG1, POTEF
4
Show member pathways
9.3ACTB, ACTG1, POTEF
59.3ACTB, ACTG1, POTEF
69.3ACTB, ACTG1, POTEF
7
Show member pathways
9.3ACTB, ACTG1, POTEF
89.3ACTB, ACTG1, POTEF
99.3ACTB, ACTG1, POTEF
10
Show member pathways
9.3ACTB, ACTG1, POTEF
11
VEGF Pathway (Qiagen)
Show member pathways
9.3ACTB, ACTG1, POTEF
12
Show member pathways
9.3ACTB, ACTG1, POTEF
139.3ACTB, ACTG1, POTEF
14
Show member pathways
9.3ACTB, ACTG1, POTEF
15
Show member pathways
9.3ACTB, ACTG1, POTEF
16
Show member pathways
9.3ACTB, ACTG1, POTEF
17
Show member pathways
9.3ACTB, ACTG1, POTEF
18
Show member pathways
9.3ACTB, ACTG1, POTEF
19
Show member pathways
9.3ACTB, ACTG1, POTEF
209.3ACTB, ACTG1, POTEF
21
Show member pathways
9.3ACTB, ACTG1, POTEF
229.3ACTB, ACTG1, POTEF
239.3ACTB, ACTG1, POTEF
249.3ACTB, ACTG1, POTEF
259.3ACTB, ACTG1, POTEF
269.3ACTB, ACTG1, POTEF
279.3ACTB, ACTG1, POTEF
289.3ACTB, ACTG1, POTEF
299.3ACTB, ACTG1, POTEF
30
Salmonella infection (KEGG)
Show member pathways
9.3ACTB, ACTG1, POTEF
31
Salmonella Infection (Qiagen)
Show member pathways
9.3ACTB, ACTG1, POTEF
329.3ACTB, ACTG1, POTEF
33
Show member pathways
8.9ACTB, ACTG1, NDE1, POTEF
34
Show member pathways
8.9ACTB, ACTG1, NDE1, POTEF
35
Show member pathways
8.9ACTB, ACTG1, GABRD, POTEF
36
Show member pathways
8.8ACTB, ACTG1, GJC2, POTEF
37
Show member pathways
8.8ACTB, ACTG1, GJC2, POTEF
38
Show member pathways
8.7ACTB, ACTG1, COL2A1, POTEF
398.7ACTB, ACTG1, COL2A1, POTEF
40
Show member pathways
8.7ACTB, ACTG1, COL2A1, POTEF
41
Show member pathways
8.7ACTB, ACTG1, COL2A1, POTEF
42
Show member pathways
8.7ACTB, ACTG1, COL2A1, POTEF
438.5ACTB, ACTG1, POTEF, PTPN11
448.5ACTB, ACTG1, POTEF, PTPN11
45
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
468.5ACTB, ACTG1, POTEF, PTPN11
47
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
48
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
49
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
50
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11

GO Terms for genes affiliated with Baraitser-Winter Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1dense bodyGO:009743310.4ACTB, ACTG1
2myelin sheathGO:00432099.4ACTB, ACTG1, GJC2
3blood microparticleGO:00725629.2ACTB, ACTG1, POTEF

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1platelet aggregationGO:007052710.3ACTB, ACTG1
2adherens junction organizationGO:003433210.1ACTB, ACTG1
3cell-cell junction organizationGO:004521610.1ACTB, ACTG1
4retina homeostasisGO:00018959.6ACTB, ACTG1, POTEF
5ephrin receptor signaling pathwayGO:00480139.4ACTB, ACTG1, PTPN11
6inner ear developmentGO:00488399.0COL2A1, PTPN11
7axon guidanceGO:00074118.4ACTB, ACTG1, COL2A1, PTPN11

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.3ACTB, ACTG1, COL2A1, DYRK1A, NDE1

Sources for Baraitser-Winter Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet