BOFS
MCID: BRN003
MIFTS: 51

Branchiooculofacial Syndrome (BOFS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Branchiooculofacial Syndrome

MalaCards integrated aliases for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 56 12 24 52 73 36 29 13 6 15 39
Branchio-Oculo-Facial Syndrome 74 25 58 73 54 71
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 56 52 25 73
Bof Syndrome 56 24 73 54
Bofs 56 25 58 73
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 56 52 73
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 56 25
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 52 73
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 25
Bofs Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
branchio-oculo-facial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
normal intelligence in majority


HPO:

31
branchiooculofacial syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Bofs has shown almost complete penetrance. careful examination of individuals identified in a family with bofs with a tfap2a pathogenic variant is necessary to reveal subtle findings including premature graying (individuals may have dyed their hair), faint hair on the neck, or heterochromia of the irides.

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Branchiooculofacial Syndrome

Genetics Home Reference : 25 Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo that give rise to tissues in the face and neck. In people with branchio-oculo-facial syndrome, the first and second branchial arches do not develop properly, leading to abnormal patches of skin, typically on the neck or near the ears. These patches can be unusually thin, hairy, or red and densely packed with blood vessels (hemangiomatous). In a small number of individuals, tissue from a gland called the thymus is abnormally located on the skin of the neck (dermal thymus). Problems with branchial arch development underlie many of the other features of branchio-oculo-facial syndrome. "Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome have malformations of the eyes that can lead to vision impairment. These abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make up the eyes (coloboma), or blockage of the tear ducts (nasolacrimal duct stenosis). Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many affected individuals have a split in the upper lip (cleft lip) or a pointed upper lip that resembles a poorly repaired cleft lip (often called a pseudocleft lip) with or without an opening in the roof of the mouth (cleft palate). Other facial characteristics include widely spaced eyes (hypertelorism), an increased distance between the inner corners of the eyes (telecanthus), outside corners of the eyes that point upward (upslanting palpebral fissures), a broad nose with a flattened tip, and weakness of the muscles in the lower face. The ears are also commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition. Branchio-oculo-facial syndrome can affect other structures and tissues as well. Some affected individuals have kidney abnormalities, such as malformed kidneys or multiple kidney cysts. Nail and teeth abnormalities also occur, and some people with this condition have prematurely graying hair.

MalaCards based summary : Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to lacrimal duct obstruction and ear malformation. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways are Apoptosis and Autophagy and Neural Crest Differentiation. Affiliated tissues include skin, kidney and eye, and related phenotypes are everted lower lip vermilion and atypical scarring of skin

Disease Ontology : 12 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

NIH Rare Diseases : 52 Branchiooculo facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait .

OMIM : 56 Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reported (summary by Tekin et al., 2009). See also chromosome 6pter-p24 deletion syndrome (612582) for a similar phenotype. The deletion region lies telomeric to the TFAP2A gene. (113620)

KEGG : 36 Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease.

UniProtKB/Swiss-Prot : 73 Branchiooculofacial syndrome: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.

Wikipedia : 74 Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is... more...

GeneReviews: NBK55063

Related Diseases for Branchiooculofacial Syndrome

Diseases related to Branchiooculofacial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 lacrimal duct obstruction 31.4 TFAP2A EYA1
2 ear malformation 31.0 TFAP2A EYA1
3 cleft lip with or without cleft palate 30.5 TFAP2A MSX1 IRF6
4 colobomatous microphthalmia 30.0 VAX1 TFAP2A
5 patent ductus arteriosus 1 29.9 TFAP2D TFAP2B TFAP2A
6 coloboma of macula 29.7 VAX1 TFAP2A MSX1 EYA1
7 cleft lip 29.7 VAX1 TFAP2A MSX1 IRF6
8 orofacial cleft 29.2 VAX1 TFAP2A NHLH1 MSX1 IRF6 EYA1
9 cleft palate, isolated 29.2 VAX1 TFAP2A NHLH1 MSX1 IRF6
10 branchiootic syndrome 1 10.5
11 cleft lip/palate 10.5
12 catatrichy 10.4
13 polydactyly 10.4
14 ptosis 10.4
15 branchial cleft anomalies 10.3
16 branchiootorenal syndrome 1 10.3
17 cleft chin 10.3
18 lacrimal duct defect 10.3
19 tetralogy of fallot 10.3
20 renal hypodysplasia/aplasia 1 10.3
21 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
22 pulmonic stenosis 10.3
23 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
24 hypertrophic scars 10.3
25 arrhythmogenic right ventricular cardiomyopathy 10.3
26 benign teratoma 10.3
27 sensorineural hearing loss 10.3
28 hydronephrosis 10.3
29 cystic teratoma 10.3
30 hypertrichosis 10.3
31 holoprosencephaly 10.3
32 mature teratoma 10.3
33 cataract 10.3
34 waardenburg's syndrome 10.3
35 dominant cleft palate 10.3
36 encephalocele 10.3
37 meningoencephalocele 10.3
38 multicystic dysplastic kidney 10.3
39 combined hamartoma of the retina and retinal pigment epithelium 10.3
40 unilateral multicystic dysplastic kidney 10.3
41 cleft lip and alveolus 10.2 MSX1 IRF6
42 isolated cleft lip 10.2 MSX1 IRF6
43 syngnathia 10.1 MSX1 IRF6
44 opitz-gbbb syndrome 10.1 MIR374B MIR1271
45 hypertelorism 10.1
46 telecanthus 10.1
47 fryns microphthalmia syndrome 10.1
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
49 microphthalmia 10.1
50 branchiootorenal syndrome 10.1

Graphical network of the top 20 diseases related to Branchiooculofacial Syndrome:



Diseases related to Branchiooculofacial Syndrome

Symptoms & Phenotypes for Branchiooculofacial Syndrome

Human phenotypes related to Branchiooculofacial Syndrome:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
2 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
3 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
4 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
5 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
6 hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001028
7 preauricular pit 58 31 very rare (1%) Very frequent (99-80%) HP:0004467
8 abnormality of the pinna 58 31 hallmark (90%) Very frequent (99-80%) HP:0000377
9 postauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004464
10 supraauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0008606
11 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
12 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
15 intrauterine growth retardation 58 31 very rare (1%) Frequent (79-30%) HP:0001511
16 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
17 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
18 premature graying of hair 58 31 very rare (1%) Frequent (79-30%) HP:0002216
19 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
20 iris coloboma 58 31 very rare (1%) Frequent (79-30%) HP:0000612
21 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
22 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
23 nasolacrimal duct obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0000579
24 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
25 fingernail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100798
26 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
27 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
30 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
31 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
32 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
33 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
34 renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000104
35 upper lip pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0100268
36 hearing impairment 31 very rare (1%) HP:0000365
37 postnatal growth retardation 31 very rare (1%) HP:0008897
38 microphthalmia 31 very rare (1%) HP:0000568
39 facial palsy 31 very rare (1%) HP:0010628
40 sparse hair 31 very rare (1%) HP:0008070
41 retinal coloboma 31 very rare (1%) HP:0000480
42 cleft of chin 31 very rare (1%) HP:0011323
43 dimple chin 31 very rare (1%) HP:0010751
44 depressed nasal bridge 31 HP:0005280
45 hypertelorism 31 HP:0000316
46 short neck 31 HP:0000470
47 kyphosis 31 HP:0002808
48 abnormality of the dentition 31 HP:0000164
49 microtia 31 HP:0008551
50 microcephaly 31 HP:0000252

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
hypertelorism
strabismus
ptosis
myopia
more
Skeletal Spine:
kyphosis
lordosis

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
small forehead

Skeletal Hands:
single transverse palmar crease
clinodactyly
polydactyly
hypoplastic thumbs

Genitourinary Kidneys:
renal agenesis
cystic kidney

Skeletal Skull:
fusion of middle ear ossicles
malar hypoplasia
mastoid hypoplasia with absence of air cells

Growth Other:
prenatal growth deficiency (27%)
postnatal growth deficiency (50%)

Head And Neck Neck:
branchial anomalies

Voice:
hypernasal speech

Head And Neck Nose:
depressed nasal bridge
broad nasal tip
short nasal septum
divided nasal tip

Head And Neck Ears:
microtia
low-set ears
preauricular pit
posteriorly rotated ears
hypoplastic superior helix
more
Head And Neck Mouth:
cleft palate
pseudocleft
incomplete/complete cleft lip
lip pits

Skin Nails Hair Hair:
premature graying of hair

Skin Nails Hair Skin:
single transverse palmar crease
aplasia cutis congenita
subcutaneous scalp cysts
hemangiomatous branchial clefts (extend along sternocleidomastoid muscle)

Neurologic Central Nervous System:
agenesis of cerebellar vermis
mild mental retardation

Chest Breasts:
widely spaced nipples
supernumerary nipples

Head And Neck Teeth:
dental abnormalities

Skin Nails Hair Nails:
hypoplastic fingernails

Immunology:
ectopic thymus

Clinical features from OMIM:

113620

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.1 EYA1 IRF6 MSX1 TFAP2A TFAP2B VAX1

Drugs & Therapeutics for Branchiooculofacial Syndrome

Search Clinical Trials , NIH Clinical Center for Branchiooculofacial Syndrome

Genetic Tests for Branchiooculofacial Syndrome

Genetic tests related to Branchiooculofacial Syndrome:

# Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome 29 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

40
Skin, Kidney, Eye, Thymus, Bone, Retina, Colon

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 61 24 6 56
20358615 2010
2
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 61 24 56 6
19685247 2009
3
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. 61 56 6 24
19206157 2009
4
TFAP2A mutations result in branchio-oculo-facial syndrome. 24 6 56 61
18423521 2008
5
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 56 6 61 54
10767004 2000
6
Further delineation of the branchio-oculo-facial syndrome. 6 56 61
7747785 1995
7
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. 24 56 61
25325185 2015
8
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 24 56 61
19764023 2009
9
Branchiooculofacial Syndrome 6 61
21634087 2011
10
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. 56 61
20635357 2010
11
New ophthalmic manifestations of branchio-oculo-facial syndrome. 61 56
15734008 2005
12
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. 56 61
11152153 2001
13
Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. 61 56
9761567 1998
14
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? 61 56
8832722 1996
15
Branchio-oculo-facial syndrome: broadening the spectrum. 56 61
8160736 1994
16
Long-term evaluation of a child with the branchio-oculo-facial syndrome. 61 56
1456287 1992
17
Recurrence of orbital cysts in the branchio-oculo-facial syndrome. 56 61
1619642 1992
18
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. 56 61
1499589 1992
19
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 56 61
2354548 1990
20
New autosomal dominant branchio-oculo-facial syndrome. 61 56
3321995 1987
21
An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. 24 61
27607113 2016
22
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 61 24
25590586 2015
23
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. 24 61
24783654 2014
24
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 24 61
23578821 2013
25
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. 24 61
23495225 2013
26
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. 24 61
23307527 2013
27
[Branchio-oculo-facial syndrome]. 24 61
22963965 2012
28
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. 61 24
21539471 2012
29
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. 24 61
21728810 2011
30
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 61 24
21204207 2011
31
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. 61 24
19795528 2009
32
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301552 2004
33
Branchio-oculo-facial syndrome. 24 61
10906521 2000
34
Delineation of two distinct 6p deletion syndromes. 56
10071194 1999
35
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 56
1576761 1992
36
Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. 56
6829601 1983
37
Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. 56
7200726 1982
38
Timing, rates and spectra of human germline mutation. 24
26656846 2016
39
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 24
25525159 2015
40
Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme. 24
17984226 2008
41
Redundant activities of Tfap2a and Tfap2c are required for neural crest induction and development of other non-neural ectoderm derivatives in zebrafish embryos. 24
17258188 2007
42
The AP-2alpha transcription factor regulates tumor cell migration and apoptosis. 24
17695722 2007
43
Transcription factor AP-2 and monoaminergic functions in the central nervous system. 24
15959839 2005
44
The AP-2 family of transcription factors. 24
16420676 2005
45
Loss of the AP-2alpha transcription factor is associated with the grade of human gliomas. 24
15671555 2005
46
An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. 24
15181535 2004
47
Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects. 24
14975718 2004
48
Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects. 24
14975722 2004
49
lockjaw encodes a zebrafish tfap2a required for early neural crest development. 24
14534133 2003
50
Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. 24
14534139 2003

Variations for Branchiooculofacial Syndrome

ClinVar genetic disease variations for Branchiooculofacial Syndrome:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2A NM_001042425.2(TFAP2A):c.751A>G (p.Arg251Gly)SNV Pathogenic 17937 rs121909574 6:10404742-10404742 6:10404509-10404509
2 TFAP2A NM_001032280.3(TFAP2A):c.767G>A (p.Gly256Glu)SNV Pathogenic 17938 rs121909575 6:10402823-10402823 6:10402590-10402590
3 TFAP2A TFAP2A, 12-BP DEL, NT697deletion Pathogenic 17939
4 TFAP2A TFAP2A, PHE319SERSNV Pathogenic 17940
5 TFAP2A TFAP2A, 18-BP DEL/6-BP INS, NT828indel Pathogenic 17941
6 TFAP2A NM_001042425.2(TFAP2A):c.637C>A (p.Arg213Ser)SNV Pathogenic 192350 rs793888540 6:10404856-10404856 6:10404623-10404623
7 TFAP2A NM_001042425.2(TFAP2A):c.629T>A (p.Val210Asp)SNV Pathogenic 192351 rs793888541 6:10404864-10404864 6:10404631-10404631
8 TFAP2A NM_001032280.3(TFAP2A):c.692G>A (p.Arg231Gln)SNV Pathogenic 18466 rs151344525 6:10404795-10404795 6:10404562-10404562
9 TFAP2A NM_001032280.3(TFAP2A):c.868G>A (p.Glu290Lys)SNV Pathogenic 18465 rs267607108 6:10400820-10400820 6:10400587-10400587
10 TFAP2A NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)SNV Pathogenic 807514 6:10404759-10404759 6:10404526-10404526
11 TFAP2A NM_001032280.3(TFAP2A):c.742C>G (p.Arg248Gly)SNV Pathogenic 547801 rs151344528 6:10404745-10404745 6:10404512-10404512
12 TFAP2A NM_001032280.3(TFAP2A):c.742C>T (p.Arg248Trp)SNV Pathogenic 547802 rs151344528 6:10404745-10404745 6:10404512-10404512
13 TFAP2A NM_001032280.3(TFAP2A):c.749C>T (p.Ala250Val)SNV Pathogenic 547803 rs151344531 6:10402841-10402841 6:10402608-10402608
14 TFAP2A NM_001032280.3(TFAP2A):c.692G>C (p.Arg231Pro)SNV Pathogenic 547798 rs151344525 6:10404795-10404795 6:10404562-10404562
15 TFAP2A NM_001032280.3(TFAP2A):c.695T>C (p.Leu232Pro)SNV Likely pathogenic 547799 rs1554111734 6:10404792-10404792 6:10404559-10404559
16 TFAP2A NM_001032280.3(TFAP2A):c.731G>A (p.Gly244Asp)SNV Likely pathogenic 547800 rs1554111717 6:10404756-10404756 6:10404523-10404523
17 TFAP2A NM_001032280.3(TFAP2A):c.871G>C (p.Ala291Pro)SNV Likely pathogenic 547804 rs1554110994 6:10400817-10400817 6:10400584-10400584
18 TFAP2A NM_001032280.3(TFAP2A):c.1296A>G (p.Ter432Trp)SNV Likely pathogenic 547805 rs1554110673 6:10398650-10398650 6:10398417-10398417
19 TFAP2A NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)SNV Likely pathogenic 829802 6:10404753-10404753 6:10404520-10404520
20 TFAP2A NM_001032280.3(TFAP2A):c.743G>A (p.Arg248Gln)SNV Likely pathogenic 522084 rs151344530 6:10404744-10404744 6:10404511-10404511
21 TFAP2A NM_001032280.3(TFAP2A):c.688C>T (p.Arg230Trp)SNV Likely pathogenic 559909 rs1554111749 6:10404799-10404799 6:10404566-10404566
22 TFAP2A NM_001032280.3(TFAP2A):c.383_389dup (p.Pro131fs)duplication Likely pathogenic 547796 rs1554112492 6:10410206-10410207 6:10409973-10409974
23 TFAP2A NM_001032280.3(TFAP2A):c.679G>A (p.Glu227Lys)SNV Likely pathogenic 547797 rs1554111751 6:10404808-10404808 6:10404575-10404575
24 TFAP2A NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)SNV Likely benign 802190 6:10407071-10407071 6:10406838-10406838

UniProtKB/Swiss-Prot genetic disease variations for Branchiooculofacial Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TFAP2A p.Leu249Pro VAR_045838
2 TFAP2A p.Arg254Gly VAR_045839 rs151344528
3 TFAP2A p.Arg255Gly VAR_045840 rs121909574
4 TFAP2A p.Gly262Glu VAR_045841 rs121909575

Expression for Branchiooculofacial Syndrome

Search GEO for disease gene expression data for Branchiooculofacial Syndrome.

Pathways for Branchiooculofacial Syndrome

GO Terms for Branchiooculofacial Syndrome

Cellular components related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 VAX1 UTP15 TFAP2E TFAP2D TFAP2C TFAP2B
2 nuclear chromatin GO:0000790 9.28 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A

Biological processes related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 VAX1 TFAP2C TFAP2B TFAP2A MSX1 KCTD1
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 TFAP2D TFAP2B TFAP2A IRF6 EYA1
4 negative regulation of cell proliferation GO:0008285 9.81 TFAP2B TFAP2A MSX1 IRF6
5 regulation of transcription by RNA polymerase II GO:0006357 9.76 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
6 regulation of cell proliferation GO:0042127 9.72 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
7 positive regulation of transcription by RNA polymerase II GO:0045944 9.61 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A NHLH1
8 roof of mouth development GO:0060021 9.56 VAX1 TFAP2A MSX1 IRF6
9 bone morphogenesis GO:0060349 9.54 TFAP2A MSX1
10 embryonic forelimb morphogenesis GO:0035115 9.52 TFAP2A MSX1
11 retina layer formation GO:0010842 9.49 TFAP2B TFAP2A
12 middle ear morphogenesis GO:0042474 9.48 MSX1 EYA1
13 aorta morphogenesis GO:0035909 9.43 TFAP2B EYA1
14 anatomical structure development GO:0048856 9.1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A EYA1

Molecular functions related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
2 sequence-specific DNA binding GO:0043565 9.85 VAX1 TFAP2B TFAP2A MSX1 IRF6
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 VAX1 TFAP2E TFAP2C TFAP2B TFAP2A
4 DNA-binding transcription factor activity GO:0003700 9.8 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.71 VAX1 TFAP2C TFAP2A MSX1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 TFAP2E TFAP2C TFAP2B TFAP2A NHLH1 MSX1
7 proximal promoter sequence-specific DNA binding GO:0000987 9.54 TFAP2B TFAP2A MSX1
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.5 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A NHLH1
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A

Sources for Branchiooculofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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