MCID: BRT040
MIFTS: 33

Baraitser-Winter Syndrome malady

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

Aliases & Classifications for Baraitser-Winter Syndrome

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Aliases & Descriptions for Baraitser-Winter Syndrome:

Name: Baraitser-Winter Syndrome 11 46 24 13
Fryns-Aftimos Syndrome 46 24 66
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 24 66
Cerebro-Frontofacial Syndrome, Type 3 46 24
 
Brws 46 24
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 46
Trigonocephaly Ptosis Mental Retardation 46
Trigonocephaly Ptosis Coloboma 46

Classifications:



External Ids:

Disease Ontology11 DOID:0060229
ICD1028 Q87.0

Summaries for Baraitser-Winter Syndrome

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Disease Ontology:11 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 are MSP-RON Signaling and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear 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

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Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Diseases related to Baraitser-Winter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1baraitser-winter syndrome 212.5
2baraitser-winter syndrome 112.5
3ptosis10.2
4polymicrogyria10.2
5pachygyria10.2
6subcortical band heterotopia10.2
7best vitelliform macular dystrophy9.9ACTB, ACTG1
8delusional disorder9.7ACTG1, PTPN11
9hemochromatosis, neonatal9.6ACTB, ACTG1, POTEF
10bruck syndrome6.6ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2

Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Symptoms for Baraitser-Winter Syndrome

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UMLS symptoms related to Baraitser-Winter Syndrome:


seizures

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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Anatomical Context for Baraitser-Winter Syndrome

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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

34
Brain

Animal Models for Baraitser-Winter Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Baraitser-Winter Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3ACTB, ACTG1, COL2A1, GABRD, PTPN11
2MP:00053808.0ACTB, COL2A1, DYRK1A, NDE1, PTPN11
3MP:00053867.8ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2
4MP:00036316.3ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2

Publications for Baraitser-Winter Syndrome

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Articles related to Baraitser-Winter Syndrome:

idTitleAuthorsYear
1
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. (27096712)
2016
2
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome. (24211661)
2014
3
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. (23756437)
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

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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 all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.8ACTB, ACTG1
29.8ACTB, ACTG1
39.8ACTB, ACTG1
49.8ACTB, ACTG1
59.8ACTB, ACTG1
69.8ACTB, ACTG1
7
Show member pathways
9.8ACTB, ACTG1
8
Show member pathways
9.4ACTB, ACTG1, NDE1
9
Show member pathways
9.4ACTB, ACTG1, GJC2
10
Show member pathways
9.4ACTB, ACTG1, GJC2
11
Show member pathways
9.2ACTB, ACTG1, COL2A1
12
Show member pathways
9.0ACTB, ACTG1, PTPN11
139.0ACTB, ACTG1, PTPN11
14
Show member pathways
9.0ACTB, ACTG1, PTPN11
159.0ACTB, ACTG1, PTPN11
16
Show member pathways
9.0ACTB, ACTG1, 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:009743310.3ACTB, ACTG1
2myelin sheathGO:00432099.4ACTB, ACTG1, GJC2
3blood microparticleGO:00725629.0ACTB, ACTG1, POTEF

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

idNameGO IDScoreTop Affiliating Genes
1cell junction assemblyGO:003432910.3ACTB, ACTG1
2platelet aggregationGO:007052710.0ACTB, ACTG1
3vascular endothelial growth factor receptor signaling pathwayGO:00480109.8ACTB, ACTG1
4retina homeostasisGO:00018959.5ACTB, ACTG1, POTEF
5inner ear developmentGO:00488398.9COL2A1, PTPN11
6ephrin receptor signaling pathwayGO:00480138.7ACTB, ACTG1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet