MCID: BRT046
MIFTS: 32

Baraitser-Winter Cerebrofrontofacial Syndrome

Aliases & Classifications for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards integrated aliases for Baraitser-Winter Cerebrofrontofacial Syndrome:

Name: Baraitser-Winter Cerebrofrontofacial Syndrome 24

Characteristics:

GeneReviews:

24
Penetrance The penetrance of bwcff syndrome appears to be complete...

Summaries for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards based summary : Baraitser-Winter Cerebrofrontofacial Syndrome is related to baraitser-winter syndrome 1 and leukemia, acute myeloid. An important gene associated with Baraitser-Winter Cerebrofrontofacial Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Influenza A. Affiliated tissues include myeloid, and related phenotypes are hypertelorism and short neck

GeneReviews: NBK327153

Related Diseases for Baraitser-Winter Cerebrofrontofacial Syndrome

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

# Related Disease Score Top Affiliating Genes
1 baraitser-winter syndrome 1 10.8
2 leukemia, acute myeloid 10.4
3 leukemia 10.4
4 epilepsy 10.4
5 myeloid leukemia 10.4
6 congenital ptosis 9.8 ACTB ACTG1
7 hypotonia-cystinuria syndrome 9.8 ACTB ACTG1
8 baraitser-winter syndrome 9.7 ACTB ACTG1

Graphical network of the top 20 diseases related to Baraitser-Winter Cerebrofrontofacial Syndrome:



Diseases related to Baraitser-Winter Cerebrofrontofacial Syndrome

Symptoms & Phenotypes for Baraitser-Winter Cerebrofrontofacial Syndrome

Human phenotypes related to Baraitser-Winter Cerebrofrontofacial Syndrome:

32 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 short neck 32 frequent (33%) HP:0000470
3 ptosis 32 hallmark (90%) HP:0000508
4 intellectual disability 32 hallmark (90%) HP:0001249
5 seizures 32 hallmark (90%) HP:0001250
6 failure to thrive 32 hallmark (90%) HP:0001508
7 dysphasia 32 hallmark (90%) HP:0002357
8 scoliosis 32 occasional (7.5%) HP:0002650
9 coarse facial features 32 hallmark (90%) HP:0000280
10 global developmental delay 32 hallmark (90%) HP:0001263
11 skeletal dysplasia 32 hallmark (90%) HP:0002652
12 wide nasal bridge 32 hallmark (90%) HP:0000431
13 joint stiffness 32 frequent (33%) HP:0001387
14 microcephaly 32 frequent (33%) HP:0000252
15 full cheeks 32 hallmark (90%) HP:0000293
16 long philtrum 32 hallmark (90%) HP:0000343
17 micrognathia 32 hallmark (90%) HP:0000347
18 transient ischemic attack 32 occasional (7.5%) HP:0002326
19 feeding difficulties 32 hallmark (90%) HP:0011968
20 retrognathia 32 hallmark (90%) HP:0000278
21 epicanthus 32 hallmark (90%) HP:0000286
22 growth delay 32 hallmark (90%) HP:0001510
23 webbed neck 32 occasional (7.5%) HP:0000465
24 specific learning disability 32 hallmark (90%) HP:0001328
25 low posterior hairline 32 frequent (33%) HP:0002162
26 aphasia 32 hallmark (90%) HP:0002381
27 palpebral edema 32 occasional (7.5%) HP:0100540
28 telecanthus 32 hallmark (90%) HP:0000506
29 heterochromia iridis 32 frequent (33%) HP:0001100
30 wide mouth 32 hallmark (90%) HP:0000154
31 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
32 retinoschisis 32 frequent (33%) HP:0030502
33 pointed chin 32 hallmark (90%) HP:0000307
34 highly arched eyebrow 32 hallmark (90%) HP:0002553
35 long palpebral fissure 32 hallmark (90%) HP:0000637
36 large fontanelles 32 frequent (33%) HP:0000239
37 thin vermilion border 32 hallmark (90%) HP:0000233
38 iris coloboma 32 hallmark (90%) HP:0000612
39 microcornea 32 occasional (7.5%) HP:0000482
40 hydronephrosis 32 frequent (33%) HP:0000126
41 optic nerve coloboma 32 occasional (7.5%) HP:0000588
42 pachygyria 32 hallmark (90%) HP:0001302
43 polymicrogyria 32 hallmark (90%) HP:0002126
44 long nose 32 frequent (33%) HP:0003189
45 wide nose 32 hallmark (90%) HP:0000445
46 hydroureter 32 frequent (33%) HP:0000072
47 prominent metopic ridge 32 hallmark (90%) HP:0005487
48 depressed nasal tip 32 hallmark (90%) HP:0000437
49 trigonocephaly 32 frequent (33%) HP:0000243
50 prominent nose 32 frequent (33%) HP:0000448

GenomeRNAi Phenotypes related to Baraitser-Winter Cerebrofrontofacial Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.96 ACTB ACTG1
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.62 ACTB ACTG1

Drugs & Therapeutics for Baraitser-Winter Cerebrofrontofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Baraitser-Winter Cerebrofrontofacial Syndrome

Genetic Tests for Baraitser-Winter Cerebrofrontofacial Syndrome

Anatomical Context for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards organs/tissues related to Baraitser-Winter Cerebrofrontofacial Syndrome:

41
Myeloid

Publications for Baraitser-Winter Cerebrofrontofacial Syndrome

Articles related to Baraitser-Winter Cerebrofrontofacial Syndrome:

# Title Authors Year
1
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. ( 27868373 )
2017
2
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. ( 28413780 )
2017
3
Baraitser-Winter Cerebrofrontofacial Syndrome. ( 27625340 )
2016
4
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. ( 27240540 )
2016
5
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. ( 25052316 )
2015
6
Baraitser-Winter Cerebrofrontofacial Syndrome ( 26583190 )
1993

Variations for Baraitser-Winter Cerebrofrontofacial Syndrome

Expression for Baraitser-Winter Cerebrofrontofacial Syndrome

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

Pathways for Baraitser-Winter Cerebrofrontofacial Syndrome

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

(show top 50) (show all 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 ACTB ACTG1
2
Show member pathways
12.41 ACTB ACTG1
3
Show member pathways
12.38 ACTB ACTG1
4
Show member pathways
12.36 ACTB ACTG1
5
Show member pathways
12.35 ACTB ACTG1
6
Show member pathways
12.3 ACTB ACTG1
7
Show member pathways
12.29 ACTB ACTG1
8
Show member pathways
12.27 ACTB ACTG1
9 12.27 ACTB ACTG1
10
Show member pathways
12.24 ACTB ACTG1
11
Show member pathways
12.23 ACTB ACTG1
12
Show member pathways
12.19 ACTB ACTG1
13
Show member pathways
12.19 ACTB ACTG1
14 12.18 ACTB ACTG1
15
Show member pathways
12.16 ACTB ACTG1
16
Show member pathways
12.13 ACTB ACTG1
17
Show member pathways
12.11 ACTB ACTG1
18
Show member pathways
12.09 ACTB ACTG1
19
Show member pathways
12.08 ACTB ACTG1
20
Show member pathways
12.06 ACTB ACTG1
21
Show member pathways
12.05 ACTB ACTG1
22
Show member pathways
12.05 ACTB ACTG1
23
Show member pathways
12.04 ACTB ACTG1
24
Show member pathways
12.04 ACTB ACTG1
25
Show member pathways
12.02 ACTB ACTG1
26
Show member pathways
11.99 ACTB ACTG1
27 11.95 ACTB ACTG1
28
Show member pathways
11.95 ACTB ACTG1
29
Show member pathways
11.91 ACTB ACTG1
30
Show member pathways
11.87 ACTB ACTG1
31 11.85 ACTB ACTG1
32
Show member pathways
11.83 ACTB ACTG1
33 11.79 ACTB ACTG1
34 11.78 ACTB ACTG1
35 11.71 ACTB ACTG1
36 11.7 ACTB ACTG1
37 11.66 ACTB ACTG1
38 11.64 ACTB ACTG1
39 11.6 ACTB ACTG1
40 11.59 ACTB ACTG1
41
Show member pathways
11.58 ACTB ACTG1
42
Show member pathways
11.54 ACTB ACTG1
43 11.43 ACTB ACTG1
44 11.35 ACTB ACTG1
45 11.35 ACTB ACTG1
46 11.31 ACTB ACTG1
47 11.27 ACTB ACTG1
48 11.25 ACTB ACTG1
49 11.18 ACTB ACTG1
50 11.16 ACTB ACTG1

GO Terms for Baraitser-Winter Cerebrofrontofacial Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.26 ACTB ACTG1
2 actin cytoskeleton GO:0015629 9.16 ACTB ACTG1
3 blood microparticle GO:0072562 8.96 ACTB ACTG1
4 dense body GO:0097433 8.62 ACTB ACTG1

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

# Name GO ID Score Top Affiliating Genes
1 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.37 ACTB ACTG1
2 membrane organization GO:0061024 9.32 ACTB ACTG1
3 ephrin receptor signaling pathway GO:0048013 9.26 ACTB ACTG1
4 platelet aggregation GO:0070527 9.16 ACTB ACTG1
5 retina homeostasis GO:0001895 8.96 ACTB ACTG1
6 cell junction assembly GO:0034329 8.62 ACTB ACTG1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 ACTB ACTG1

Sources for Baraitser-Winter Cerebrofrontofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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