MCID: BRT046
MIFTS: 27

Baraitser-Winter Cerebrofrontofacial Syndrome

Aliases & Classifications for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards integrated aliases for Baraitser-Winter Cerebrofrontofacial Syndrome:

Name: Baraitser-Winter Cerebrofrontofacial Syndrome 25 30

Characteristics:

GeneReviews:

25
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 Gastric cancer. Affiliated tissues include myeloid, and related phenotypes are hypertelorism and ptosis

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 10.4
2 leukemia, acute myeloid 10.4
3 leukemia 10.4
4 epilepsy 10.4
5 myeloid leukemia 10.4
6 congenital ptosis 9.7 ACTB ACTG1
7 hypotonia-cystinuria syndrome 9.7 ACTB ACTG1
8 baraitser-winter syndrome 9.6 ACTB ACTG1
9 hypertelorism 9.5 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:

33 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 ptosis 33 hallmark (90%) HP:0000508
3 intellectual disability 33 hallmark (90%) HP:0001249
4 seizures 33 hallmark (90%) HP:0001250
5 failure to thrive 33 hallmark (90%) HP:0001508
6 dysphasia 33 hallmark (90%) HP:0002357
7 coarse facial features 33 hallmark (90%) HP:0000280
8 global developmental delay 33 hallmark (90%) HP:0001263
9 skeletal dysplasia 33 hallmark (90%) HP:0002652
10 wide nasal bridge 33 hallmark (90%) HP:0000431
11 full cheeks 33 hallmark (90%) HP:0000293
12 long philtrum 33 hallmark (90%) HP:0000343
13 micrognathia 33 hallmark (90%) HP:0000347
14 feeding difficulties 33 hallmark (90%) HP:0011968
15 retrognathia 33 hallmark (90%) HP:0000278
16 epicanthus 33 hallmark (90%) HP:0000286
17 growth delay 33 hallmark (90%) HP:0001510
18 specific learning disability 33 hallmark (90%) HP:0001328
19 aphasia 33 hallmark (90%) HP:0002381
20 telecanthus 33 hallmark (90%) HP:0000506
21 wide mouth 33 hallmark (90%) HP:0000154
22 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
23 pointed chin 33 hallmark (90%) HP:0000307
24 highly arched eyebrow 33 hallmark (90%) HP:0002553
25 long palpebral fissure 33 hallmark (90%) HP:0000637
26 thin vermilion border 33 hallmark (90%) HP:0000233
27 iris coloboma 33 hallmark (90%) HP:0000612
28 pachygyria 33 hallmark (90%) HP:0001302
29 polymicrogyria 33 hallmark (90%) HP:0002126
30 wide nose 33 hallmark (90%) HP:0000445
31 prominent metopic ridge 33 hallmark (90%) HP:0005487
32 depressed nasal tip 33 hallmark (90%) HP:0000437
33 short columella 33 hallmark (90%) HP:0002000
34 echolalia 33 hallmark (90%) HP:0010529
35 mutism 33 hallmark (90%) HP:0002300
36 euryblepharon 33 hallmark (90%) HP:0012905
37 osteochondrosis 33 hallmark (90%) HP:0040188
38 macrogyria 33 hallmark (90%) HP:0007227
39 short neck 33 frequent (33%) HP:0000470
40 joint stiffness 33 frequent (33%) HP:0001387
41 microcephaly 33 frequent (33%) HP:0000252
42 low posterior hairline 33 frequent (33%) HP:0002162
43 heterochromia iridis 33 frequent (33%) HP:0001100
44 trigonocephaly 33 frequent (33%) HP:0000243
45 retinoschisis 33 frequent (33%) HP:0030502
46 large fontanelles 33 frequent (33%) HP:0000239
47 hydronephrosis 33 frequent (33%) HP:0000126
48 long nose 33 frequent (33%) HP:0003189
49 hydroureter 33 frequent (33%) HP:0000072
50 prominent nose 33 frequent (33%) HP:0000448

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

27
# 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

Genetic tests related to Baraitser-Winter Cerebrofrontofacial Syndrome:

# Genetic test Affiliating Genes
1 Baraitser-Winter Cerebrofrontofacial Syndrome 30

Anatomical Context for Baraitser-Winter Cerebrofrontofacial Syndrome

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

42
Myeloid

Publications for Baraitser-Winter Cerebrofrontofacial Syndrome

Articles related to Baraitser-Winter Cerebrofrontofacial Syndrome:

# Title Authors Year
1
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant. ( 30921093 )
2019
2
Baraitser-Winter cerebrofrontofacial syndrome. ( 27625340 )
2017
3
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. ( 27868373 )
2017
4
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. ( 28413780 )
2017
5
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. ( 27240540 )
2016
6
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. ( 25052316 )
2015

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 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 ACTB ACTG1
2
Show member pathways
12.38 ACTB ACTG1
3
Show member pathways
12.37 ACTB ACTG1
4
Show member pathways
12.36 ACTB ACTG1
5
Show member pathways
12.3 ACTB ACTG1
6
Show member pathways
12.29 ACTB ACTG1
7
Show member pathways
12.27 ACTB ACTG1
8 12.27 ACTB ACTG1
9
Show member pathways
12.24 ACTB ACTG1
10
Show member pathways
12.23 ACTB ACTG1
11
Show member pathways
12.19 ACTB ACTG1
12 12.18 ACTB ACTG1
13
Show member pathways
12.18 ACTB ACTG1
14
Show member pathways
12.16 ACTB ACTG1
15
Show member pathways
12.13 ACTB ACTG1
16
Show member pathways
12.09 ACTB ACTG1
17
Show member pathways
12.08 ACTB ACTG1
18
Show member pathways
12.06 ACTB ACTG1
19
Show member pathways
12.05 ACTB ACTG1
20
Show member pathways
12.05 ACTB ACTG1
21
Show member pathways
12.04 ACTB ACTG1
22
Show member pathways
12.04 ACTB ACTG1
23
Show member pathways
12.01 ACTB ACTG1
24
Show member pathways
11.99 ACTB ACTG1
25 11.95 ACTB ACTG1
26
Show member pathways
11.95 ACTB ACTG1
27
Show member pathways
11.91 ACTB ACTG1
28
Show member pathways
11.88 ACTB ACTG1
29 11.85 ACTB ACTG1
30
Show member pathways
11.83 ACTB ACTG1
31 11.79 ACTB ACTG1
32 11.78 ACTB ACTG1
33 11.71 ACTB ACTG1
34 11.7 ACTB ACTG1
35 11.66 ACTB ACTG1
36 11.64 ACTB ACTG1
37 11.6 ACTB ACTG1
38 11.59 ACTB ACTG1
39
Show member pathways
11.58 ACTB ACTG1
40
Show member pathways
11.54 ACTB ACTG1
41 11.43 ACTB ACTG1
42 11.35 ACTB ACTG1
43 11.35 ACTB ACTG1
44 11.31 ACTB ACTG1
45 11.27 ACTB ACTG1
46 11.25 ACTB ACTG1
47 11.18 ACTB ACTG1
48 11.16 ACTB ACTG1
49 11.06 ACTB ACTG1
50 11.05 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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