MCID: BRT040
MIFTS: 31

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 48 25 13
Fryns-Aftimos Syndrome 48 25 68
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 25 68
Cerebro-Frontofacial Syndrome, Type 3 48 25
 
Brws 48 25
Iris Coloboma with Ptosis Hypertelorism and Mental Retardation 48
Trigonocephaly Ptosis Mental Retardation 48
Trigonocephaly Ptosis Coloboma 48

Classifications:



External Ids:

Disease Ontology11 DOID:0060229
ICD1030 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 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 are Cell adhesion_Endothelial cell contacts by non-junctional mechanisms and MSP-RON Signaling. Affiliated tissues include brain, and related mouse phenotypes are hearing/vestibular/ear and immune system.

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

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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 112.5
2baraitser-winter syndrome 212.5
3best vitelliform macular dystrophy10.2ACTB, ACTG1
4ptosis10.0
5polymicrogyria10.0
6pachygyria10.0
7subcortical band heterotopia10.0
8band heterotopia10.0
9hemochromatosis, neonatal9.3ACTB, ACTG1, POTEF

Graphical network of diseases related to Baraitser-Winter Syndrome:



Diseases related to baraitser-winter syndrome

Symptoms & Phenotypes for Baraitser-Winter Syndrome

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UMLS symptoms related to Baraitser-Winter Syndrome:


seizures

MGI Mouse Phenotypes related to Baraitser-Winter Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2ACTB, ACTG1, COL2A1, GABRD, PTPN11
2MP:00053878.1ACTB, COL2A1, DYRK1A, FSCN1, GJC2, PTPN11
3MP:00036317.2ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2

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:

36
Brain

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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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:009743310.5ACTB, ACTG1
2filamentous actinGO:003194110.3ACTG1, FSCN1
3blood microparticleGO:00725629.7ACTB, ACTG1, POTEF
4myelin sheathGO:00432099.0ACTB, ACTG1, FSCN1, GJC2

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

idNameGO IDScoreTop Affiliating Genes
1cell junction assemblyGO:003432910.5ACTB, ACTG1
2platelet aggregationGO:007052710.4ACTB, ACTG1
3ephrin receptor signaling pathwayGO:00480139.9ACTB, ACTG1, PTPN11
4inner ear developmentGO:00488399.8COL2A1, PTPN11
5retina homeostasisGO:00018959.1ACTB, ACTG1, POTEF

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.6ACTB, ACTG1, COL2A1, DYRK1A, NDE1

Sources for Baraitser-Winter Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet