MCID: BRT040
MIFTS: 34

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 10 45 23 12
Fryns-Aftimos Syndrome 45 23 65
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 23 65
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:



External Ids:

Disease Ontology10 DOID:0060229
ICD1027 Q87.0
UMLS65 C1855722, C1853623

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, colon and salivary gland, and related mouse phenotypes are embryo and hearing/vestibular/ear.

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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Anatomical Context for Baraitser-Winter Syndrome

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MalaCards organs/tissues related to Baraitser-Winter Syndrome:

33
Brain, Colon, Salivary gland

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:00053808.1ACTB, COL2A1, DYRK1A, NDE1, PTPN11
2MP:00053778.0ACTB, ACTG1, COL2A1, GABRD, PTPN11
3MP:00053867.9ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2
4MP:00107686.7ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2
5MP:00036316.7ACTB, ACTG1, COL2A1, DYRK1A, GABRD, GJC2

Publications for Baraitser-Winter Syndrome

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Articles related to Baraitser-Winter Syndrome:

idTitleAuthorsYear
1
Retraction: siRNA directed against c-Myc inhibits proliferation and downregulates human telomerase reverse transcriptase in human colon cancer Colo 320 cells. (19607687)
2009
2
Minor salivary gland inflammation in Devic's disease and longitudinally extensive myelitis. (18573828)
2008
3
Keishibukuryogan (gui-zhi-fu-ling-wan), a Kampo formula, decreases disease activity and soluble vascular adhesion molecule-1 in patients with rheumatoid arthritis. (16951720)
2006
4
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder. (16326827)
2005
5
Acinar dysplasia: a rare cause of neonatal respiratory failure. (15174801)
2004
6
Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. (1850191)
1991
7
The high pressure neurological syndrome in genetically epilepsy prone rats: protective effect of 2-amino-7-phosphono heptanoate. (2029931)
1991
8
Organization and evolution of a gene cluster for human immunoglobulin variable regions of the kappa type. (6086934)
1984

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 pathwaysScoreTop 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
Show member pathways
9.3ACTB, ACTG1, POTEF
12
Show member pathways
9.3ACTB, ACTG1, POTEF
13
Show member pathways
9.3ACTB, 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
20
Show member pathways
9.3ACTB, ACTG1, POTEF
219.3ACTB, 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
309.3ACTB, ACTG1, POTEF
31
Show member pathways
9.3ACTB, ACTG1, POTEF
329.3ACTB, ACTG1, POTEF
33
Show member pathways
9.3ACTB, ACTG1, POTEF
34
Show member pathways
8.9ACTB, ACTG1, GABRD, POTEF
35
Show member pathways
8.9ACTB, ACTG1, NDE1, POTEF
36
Show member pathways
8.9ACTB, ACTG1, NDE1, POTEF
37
Show member pathways
8.8ACTB, ACTG1, GJC2, POTEF
38
Show member pathways
8.8ACTB, ACTG1, GJC2, POTEF
39
Show member pathways
8.7ACTB, 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
43
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
448.5ACTB, ACTG1, POTEF, PTPN11
45
Show member pathways
8.5ACTB, ACTG1, POTEF, PTPN11
46
Show member pathways
8.5ACTB, 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
508.5ACTB, 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
1blood microparticleGO:00725629.6ACTG1, POTEF
2dense bodyGO:00974339.5ACTB, ACTG1

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

idNameGO IDScoreTop Affiliating Genes
1movement of cell or subcellular componentGO:00069289.8ACTB, ACTG1

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