MCID: BRT046
MIFTS: 43

Baraitser-Winter Cerebrofrontofacial Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards integrated aliases for Baraitser-Winter Cerebrofrontofacial Syndrome:

Name: Baraitser-Winter Cerebrofrontofacial Syndrome 25 58 29

Characteristics:

Orphanet epidemiological data:

58
baraitser-winter cerebrofrontofacial syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

25
Penetrance The penetrance of bwcff syndrome appears to be complete

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Baraitser-Winter Cerebrofrontofacial Syndrome

MalaCards based summary : Baraitser-Winter Cerebrofrontofacial Syndrome is related to ptosis and lissencephaly. An important gene associated with Baraitser-Winter Cerebrofrontofacial Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Gastric cancer. Affiliated tissues include eye, myeloid and neutrophil, and related phenotypes are intellectual disability and failure to thrive

GeneReviews: NBK327153

Related Diseases for Baraitser-Winter Cerebrofrontofacial Syndrome

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:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
4 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
8 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
9 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
11 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
12 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
13 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
14 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
15 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
16 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
17 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
18 iris coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000612
19 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
20 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
22 pointed chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000307
23 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
24 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
25 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
26 prominent metopic ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005487
27 pachygyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001302
28 depressed nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000437
29 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
30 short columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002000
31 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
32 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
33 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
34 euryblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0012905
35 osteochondrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0040188
36 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
37 macrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0007227
38 seizure 31 hallmark (90%) HP:0001250
39 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
40 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
41 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
42 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
43 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
44 heterochromia iridis 58 31 frequent (33%) Frequent (79-30%) HP:0001100
45 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
46 retinoschisis 58 31 frequent (33%) Frequent (79-30%) HP:0030502
47 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
48 long nose 58 31 frequent (33%) Frequent (79-30%) HP:0003189
49 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
50 trigonocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000243

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 8.62 ACTB
2 Decreased cell migration GR00055-A-3 8.62 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 29

Anatomical Context for Baraitser-Winter Cerebrofrontofacial Syndrome

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

40
Eye, Myeloid, Neutrophil, Brain

Publications for Baraitser-Winter Cerebrofrontofacial Syndrome

Articles related to Baraitser-Winter Cerebrofrontofacial Syndrome:

(show all 30)
# Title Authors PMID Year
1
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 61 25 6
25052316 2015
2
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 6 25
23756437 2014
3
New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. 25 6
10928857 2000
4
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 6 25
10411937 1999
5
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. 6
29261186 2018
6
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. 6
29220674 2017
7
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 6
23649928 2013
8
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 6
22366783 2012
9
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. 6
11311002 2001
10
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? 6
10327243 1999
11
Acrocallosal syndrome: report of a Brazilian girl. 6
1415343 1992
12
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. 6
3351890 1988
13
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 25
16685646 2006
14
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. 25
14681753 2003
15
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 25
12325076 2002
16
Lissencephaly and other malformations of cortical development: 1995 update. 25
7477752 1995
17
Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing. 61
32588558 2020
18
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. 61
32506774 2020
19
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome. 61
32028042 2020
20
Further delineation of putative ACTB loss-of-function variants: A 4-patient series. 61
31898838 2020
21
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant. 61
30921093 2019
22
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. 61
30315159 2018
23
Child with cerebral malformations and epilepsy. 61
29372643 2018
24
Baraitser-Winter cerebrofrontofacial syndrome. 61
27625340 2017
25
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 61
27868373 2017
26
Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome. 61
28413780 2017
27
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. 61
28487785 2017
28
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 61
27240540 2016
29
Baraitser-Winter Cerebrofrontofacial Syndrome 61
26583190 2015
30
Rare ACTG1 variants in fetal microlissencephaly. 61
26188271 2015

Variations for Baraitser-Winter Cerebrofrontofacial Syndrome

ClinVar genetic disease variations for Baraitser-Winter Cerebrofrontofacial Syndrome:

6 (show top 50) (show all 153)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTB NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) SNV Pathogenic 127161 rs281875332 GRCh37: 7:5568962-5568962
GRCh38: 7:5529331-5529331
2 ACTB NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) SNV Pathogenic 127162 rs587779769 GRCh37: 7:5568946-5568946
GRCh38: 7:5529315-5529315
3 ACTB NM_001101.5(ACTB):c.224T>C (p.Ile75Thr) SNV Pathogenic 127164 rs587779771 GRCh37: 7:5568931-5568931
GRCh38: 7:5529300-5529300
4 ACTB NM_001101.5(ACTB):c.307G>C (p.Val103Leu) SNV Pathogenic 127165 rs587779772 GRCh37: 7:5568848-5568848
GRCh38: 7:5529217-5529217
5 ACTB NM_001101.5(ACTB):c.356T>C (p.Met119Thr) SNV Pathogenic 127167 rs587779773 GRCh37: 7:5568799-5568799
GRCh38: 7:5529168-5529168
6 ACTB NM_001101.5(ACTB):c.446C>T (p.Thr149Ile) SNV Pathogenic 127169 rs587779775 GRCh37: 7:5568268-5568268
GRCh38: 7:5528637-5528637
7 ACTB NM_001101.5(ACTB):c.586C>A (p.Arg196Ser) SNV Pathogenic 127170 rs281875333 GRCh37: 7:5568128-5568128
GRCh38: 7:5528497-5528497
8 ACTB NM_001101.5(ACTB):c.611C>G (p.Ala204Gly) SNV Pathogenic 127171 rs587779776 GRCh37: 7:5568103-5568103
GRCh38: 7:5528472-5528472
9 ACTG1 NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys) SNV Pathogenic 813525 GRCh37: 17:79478388-79478388
GRCh38: 17:81511362-81511362
10 ACTB NM_001101.5(ACTB):c.351G>T (p.Glu117Asp) SNV Pathogenic 431099 rs765265404 GRCh37: 7:5568804-5568804
GRCh38: 7:5529173-5529173
11 ACTB NM_001101.5(ACTB):c.350A>T (p.Glu117Val) SNV Pathogenic 438274 rs1554329516 GRCh37: 7:5568805-5568805
GRCh38: 7:5529174-5529174
12 ACTB NM_001101.5(ACTB):c.802G>C (p.Gly268Arg) SNV Pathogenic 264642 rs1554329269 GRCh37: 7:5567912-5567912
GRCh38: 7:5528281-5528281
13 ACTB NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) SNV Pathogenic 495295 rs1554329068 GRCh37: 7:5567390-5567390
GRCh38: 7:5527759-5527759
14 ACTB NM_001101.5(ACTB):c.329del (p.Leu110fs) Deletion Pathogenic 495296 rs1554329523 GRCh37: 7:5568826-5568826
GRCh38: 7:5529195-5529195
15 ACTB NM_001101.5(ACTB):c.1097dup (p.Ser368fs) Duplication Pathogenic 495294 rs1554329078 GRCh37: 7:5567409-5567410
GRCh38: 7:5527778-5527779
16 ACTB NM_001101.5(ACTB):c.628C>T (p.Arg210Cys) SNV Pathogenic 807362 rs1584261979 GRCh37: 7:5568086-5568086
GRCh38: 7:5528455-5528455
17 ACTB NM_001101.5(ACTB):c.616C>T (p.Arg206Trp) SNV Pathogenic 860924 GRCh37: 7:5568098-5568098
GRCh38: 7:5528467-5528467
18 ACTG1 NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) SNV Pathogenic 29585 rs281875326 GRCh37: 17:79478552-79478552
GRCh38: 17:81511526-81511526
19 ACTG1 NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) SNV Pathogenic 29586 rs281875325 GRCh37: 17:79478933-79478933
GRCh38: 17:81511907-81511907
20 ACTG1 NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) SNV Pathogenic 29587 rs11549190 GRCh37: 17:79478612-79478612
GRCh38: 17:81511586-81511586
21 ACTG1 NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) SNV Pathogenic 29588 rs281875327 GRCh37: 17:79478408-79478408
GRCh38: 17:81511382-81511382
22 ACTG1 NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) SNV Pathogenic 29589 rs281875328 GRCh37: 17:79478256-79478256
GRCh38: 17:81511230-81511230
23 ACTG1 NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) SNV Pathogenic 29590 rs281875329 GRCh37: 17:79478250-79478250
GRCh38: 17:81511224-81511224
24 ACTB NM_001101.5(ACTB):c.587G>A (p.Arg196His) SNV Pathogenic 29599 rs281875334 GRCh37: 7:5568127-5568127
GRCh38: 7:5528496-5528496
25 ACTB NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) SNV Pathogenic 29600 rs281875333 GRCh37: 7:5568128-5568128
GRCh38: 7:5528497-5528497
26 ACTB NM_001101.5(ACTB):c.193C>G (p.Leu65Val) SNV Pathogenic 29601 rs281875332 GRCh37: 7:5568962-5568962
GRCh38: 7:5529331-5529331
27 ACTB NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) SNV Pathogenic 29602 rs281875331 GRCh37: 7:5569255-5569255
GRCh38: 7:5529624-5529624
28 ACTB NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) SNV Pathogenic 66051 rs397515470 GRCh37: 7:5568806-5568806
GRCh38: 7:5529175-5529175
29 ACTB NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) SNV Pathogenic 127163 rs587779770 GRCh37: 7:5568935-5568935
GRCh38: 7:5529304-5529304
30 ACTB NM_001101.5(ACTB):c.34A>C (p.Asn12His) SNV Pathogenic 127166 rs281875331 GRCh37: 7:5569255-5569255
GRCh38: 7:5529624-5529624
31 ACTB NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) SNV Pathogenic 127168 rs587779774 GRCh37: 7:5568796-5568796
GRCh38: 7:5529165-5529165
32 ACTB NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys) SNV Pathogenic 218132 rs368352689 GRCh37: 7:5567417-5567417
GRCh38: 7:5527786-5527786
33 ACTB NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) SNV Pathogenic 18275 rs104894003 GRCh37: 7:5568167-5568167
GRCh38: 7:5528536-5528536
34 ACTB NM_001101.5(ACTB):c.625G>A (p.Val209Met) SNV Pathogenic/Likely pathogenic 127172 rs587779777 GRCh37: 7:5568089-5568089
GRCh38: 7:5528458-5528458
35 ACTB NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) SNV Likely pathogenic 128262 rs587780273 GRCh37: 7:5569225-5569225
GRCh38: 7:5529594-5529594
36 ACTB NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) SNV Likely pathogenic 438273 rs1554329113 GRCh37: 7:5567494-5567494
GRCh38: 7:5527863-5527863
37 ACTG1 NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) SNV Likely pathogenic 452404 rs11549225 GRCh37: 17:79478405-79478405
GRCh38: 17:81511379-81511379
38 ACTG1 NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) SNV Likely pathogenic 1012294 GRCh37: 17:79478577-79478577
GRCh38: 17:81511551-81511551
39 ACTB NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) SNV Likely pathogenic 446430 rs1554329331 GRCh37: 7:5568187-5568187
GRCh38: 7:5528556-5528556
40 ACTB NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) SNV Likely pathogenic 466230 rs1554329646 GRCh37: 7:5569176-5569176
GRCh38: 7:5529545-5529545
41 ACTG1 NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) SNV Likely pathogenic 434079 rs11549196 GRCh37: 17:79478586-79478586
GRCh38: 17:81511560-81511560
42 ACTG1 NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) SNV Likely pathogenic 128266 rs587780275 GRCh37: 17:79478418-79478418
GRCh38: 17:81511392-81511392
43 ACTG1 NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) SNV Likely pathogenic 374385 rs1057518673 GRCh37: 17:79479263-79479263
GRCh38: 17:81512237-81512237
44 ACTG1 NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) SNV Likely pathogenic 864856 GRCh37: 17:79478400-79478400
GRCh38: 17:81511374-81511374
45 ACTG1 NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) SNV Likely pathogenic 807363 rs1598548256 GRCh37: 17:79478288-79478288
GRCh38: 17:81511262-81511262
46 ACTB NM_001101.5(ACTB):c.325C>T (p.Pro109Ser) SNV Likely pathogenic 917875 GRCh37: 7:5568830-5568830
GRCh38: 7:5529199-5529199
47 ACTB NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) Indel Likely pathogenic 968546 GRCh37: 7:5569281-5569282
GRCh38: 7:5529650-5529651
48 ACTB NM_001101.5(ACTB):c.491C>A (p.Pro164His) SNV Likely pathogenic 973260 GRCh37: 7:5568223-5568223
GRCh38: 7:5528592-5528592
49 ACTB NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) SNV Likely pathogenic 976006 GRCh37: 7:5567654-5567654
GRCh38: 7:5528023-5528023
50 ACTB NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) SNV Likely pathogenic 976684 GRCh37: 7:5569285-5569285
GRCh38: 7:5529654-5529654

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 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 ACTG1 ACTB
2
Show member pathways
12.39 ACTG1 ACTB
3
Show member pathways
12.37 ACTG1 ACTB
4
Show member pathways
12.37 ACTG1 ACTB
5
Show member pathways
12.34 ACTG1 ACTB
6
Show member pathways
12.31 ACTG1 ACTB
7
Show member pathways
12.31 ACTG1 ACTB
8
Show member pathways
12.3 ACTG1 ACTB
9
Show member pathways
12.29 ACTG1 ACTB
10 12.27 ACTG1 ACTB
11
Show member pathways
12.24 ACTG1 ACTB
12
Show member pathways
12.24 ACTG1 ACTB
13
Show member pathways
12.2 ACTG1 ACTB
14
Show member pathways
12.19 ACTG1 ACTB
15 12.18 ACTG1 ACTB
16
Show member pathways
12.17 ACTG1 ACTB
17
Show member pathways
12.15 ACTG1 ACTB
18
Show member pathways
12.13 ACTG1 ACTB
19
Show member pathways
12.11 ACTG1 ACTB
20
Show member pathways
12.1 ACTG1 ACTB
21
Show member pathways
12.09 ACTG1 ACTB
22
Show member pathways
12.08 ACTG1 ACTB
23
Show member pathways
12.07 ACTG1 ACTB
24
Show member pathways
12.05 ACTG1 ACTB
25 12.05 ACTG1 ACTB
26
Show member pathways
12.05 ACTG1 ACTB
27
Show member pathways
12.04 ACTG1 ACTB
28
Show member pathways
12.03 ACTG1 ACTB
29
Show member pathways
12.02 ACTG1 ACTB
30
Show member pathways
11.99 ACTG1 ACTB
31 11.95 ACTG1 ACTB
32
Show member pathways
11.94 ACTG1 ACTB
33
Show member pathways
11.9 ACTG1 ACTB
34 11.84 ACTG1 ACTB
35 11.82 ACTG1 ACTB
36
Show member pathways
11.82 ACTG1 ACTB
37 11.8 ACTG1 ACTB
38 11.78 ACTG1 ACTB
39 11.77 ACTG1 ACTB
40 11.71 ACTG1 ACTB
41 11.7 ACTG1 ACTB
42 11.68 ACTG1 ACTB
43 11.63 ACTG1 ACTB
44 11.61 ACTG1 ACTB
45 11.58 ACTG1 ACTB
46
Show member pathways
11.57 ACTG1 ACTB
47
Show member pathways
11.53 ACTG1 ACTB
48
Show member pathways
11.51 ACTG1 ACTB
49 11.36 ACTG1 ACTB
50 11.34 ACTG1 ACTB

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 9.48 ACTG1 ACTB
2 actin cytoskeleton GO:0015629 9.46 ACTG1 ACTB
3 cell-cell junction GO:0005911 9.43 ACTG1 ACTB
4 blood microparticle GO:0072562 9.4 ACTG1 ACTB
5 actin filament GO:0005884 9.37 ACTG1 ACTB
6 Schaffer collateral - CA1 synapse GO:0098685 9.32 ACTG1 ACTB
7 apical junction complex GO:0043296 9.26 ACTG1 ACTB
8 calyx of Held GO:0044305 9.16 ACTG1 ACTB
9 postsynaptic actin cytoskeleton GO:0098871 8.96 ACTG1 ACTB
10 dense body GO:0097433 8.62 ACTG1 ACTB

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.48 ACTG1 ACTB
2 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.46 ACTG1 ACTB
3 ephrin receptor signaling pathway GO:0048013 9.43 ACTG1 ACTB
4 platelet aggregation GO:0070527 9.4 ACTG1 ACTB
5 retina homeostasis GO:0001895 9.37 ACTG1 ACTB
6 synaptic vesicle endocytosis GO:0048488 9.32 ACTG1 ACTB
7 maintenance of permeability of blood-brain barrier GO:0035633 9.26 ACTG1 ACTB
8 cell junction assembly GO:0034329 9.16 ACTG1 ACTB
9 postsynaptic actin cytoskeleton organization GO:0098974 8.96 ACTG1 ACTB
10 morphogenesis of a polarized epithelium GO:0001738 8.62 ACTG1 ACTB

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 8.96 ACTG1 ACTB
2 structural constituent of postsynaptic actin cytoskeleton GO:0098973 8.62 ACTG1 ACTB

Sources for Baraitser-Winter Cerebrofrontofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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