BOFS
MCID: BRN003
MIFTS: 55

Branchiooculofacial Syndrome (BOFS)

Categories: Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Branchiooculofacial Syndrome

MalaCards integrated aliases for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 57 11 24 19 73 28 12 5 14 38
Branchio-Oculo-Facial Syndrome 42 58 75 73 53 71
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 57 19 42 73
Bof Syndrome 57 24 73 53
Bofs 57 42 58 73
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 57 19 73
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 57 42
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 19 73
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 42
Bofs Syndrome 19

Characteristics:


Inheritance:

Branchiooculofacial Syndrome: Autosomal dominant 57
Branchio-Oculo-Facial Syndrome: Autosomal dominant 58

Prevelance:

Branchio-Oculo-Facial Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Branchio-Oculo-Facial Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
normal intelligence in majority


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

MedlinePlus Genetics: 42 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 cleft lip/palate. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways are Ciliary landscape and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include thymus, skin and kidney, and related phenotypes are everted lower lip vermilion and atypical scarring of skin

OMIM®: 57 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) (Updated 08-Dec-2022)

GARD: 19 Branchiooculofacial 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 genetic changes in the TFAP2A gene and inherited as an autosomal dominant trait.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.

Disease Ontology: 11 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

Wikipedia: 75 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 91)
# Related Disease Score Top Affiliating Genes
1 lacrimal duct obstruction 31.3 TFAP2A EYA1
2 cleft lip/palate 30.8 MSX1 IRF6
3 cleft lip with or without cleft palate 30.6 TFAP2A MSX1
4 branchiootorenal syndrome 1 30.6 TFAP2A-AS1 TFAP2A EYA1
5 tetralogy of fallot 30.4 TFAP2B TFAP2A MSX1 CHD7
6 branchiootorenal syndrome 30.2 TFAP2A-AS1 TFAP2A EYA1 CHD7
7 orofacial cleft 30.1 VAX1 TFAP2A MSX1 IRF6 FOXD3 EYA1
8 cleft lip 30.1 VAX1 TFAP2A MSX1 IRF6 CHD7
9 microphthalmia 30.0 VAX1 TFAP2A FOXE3 EYA1
10 cleft palate, isolated 30.0 VAX1 TFAP2A MSX1 IRF6
11 coloboma of macula 30.0 VAX1 TFAP2A MSX1 FOXE3 EYA1 CHD7
12 patent ductus arteriosus 1 29.9 TFAP2D TFAP2C TFAP2B TFAP2A CHD7 AP2B1
13 combined hamartoma of the retina and retinal pigment epithelium 11.4
14 lacrimal duct defect 10.5
15 cleft lip and alveolus 10.4 MSX1 IRF6
16 isolated cleft lip 10.3 MSX1 IRF6
17 orofacial cleft 1 10.3 TFAP2A EYA1
18 syngnathia 10.3 MSX1 IRF6
19 catatrichy 10.3
20 ear malformation 10.3
21 polydactyly, preaxial i 10.3
22 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.3
23 polydactyly 10.3
24 ptosis 10.3
25 sensorineural hearing loss 10.3
26 cataract 10.3
27 children's interstitial lung disease 10.3
28 coloboma of iris 10.3 TFAP2A CHD7
29 orofacial cleft 5 10.3 VAX1 MSX1
30 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 VAX1 MSX1 IRF6
31 ankyloglossia with or without tooth anomalies 10.3 VAX1 MSX1 IRF6
32 cleft soft palate 10.2 VAX1 IRF6
33 branchiootic syndrome 10.2 MSX1 EYA1 CHD7
34 axenfeld-rieger syndrome 10.2 TFAP2B FOXE3 EYA1
35 double outlet right ventricle 10.2 TFAP2A MSX1 CHD7
36 popliteal pterygium syndrome 10.2 VAX1 TFAP2A MSX1 IRF6
37 van der woude syndrome 10.2 VAX1 TFAP2A MSX1 IRF6
38 fraser syndrome 1 10.2 TFAP2A IRF6 EYA1 CHD7
39 esotropia 10.2 TFAP2A FOXE3 CHD7
40 aniridia 1 10.2 FOXE3 FOXD3 EYA1
41 treacher collins syndrome 1 10.2 MSX1 IRF6 CHD7
42 atrial heart septal defect 10.2 TFAP2B MSX1 CHD7
43 lens subluxation 10.2 TFAP2A FOXE3
44 physical disorder 10.2 MSX1 IRF6 CHD7
45 branchial cleft anomalies 10.2
46 cleft chin 10.2
47 hemifacial hyperplasia 10.2
48 strabismus 10.2
49 thyroglossal duct cyst, familial 10.2
50 renal hypodysplasia/aplasia 1 10.2

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 30 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000232
2 atypical scarring of skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000987
3 conductive hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000405
4 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
5 deep philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002002
6 hemangioma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001028
7 preauricular pit 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004467
8 postauricular pit 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004464
9 supraauricular pit 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008606
10 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
11 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
12 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
13 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
14 microdontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000691
15 intrauterine growth retardation 58 30 Very rare (1%) Frequent (79-30%)
HP:0001511
16 dolichocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000268
17 premature graying of hair 58 30 Very rare (1%) Frequent (79-30%)
HP:0002216
18 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
19 iris coloboma 58 30 Very rare (1%) Frequent (79-30%)
HP:0000612
20 nasal speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001611
21 nasolacrimal duct obstruction 58 30 Frequent (33%) Frequent (79-30%)
HP:0000579
22 non-midline cleft lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0100335
23 fingernail dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100798
24 broad nasal tip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000455
25 tooth agenesis 30 Frequent (33%) HP:0009804
26 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
27 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
28 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
29 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
30 preaxial hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001177
31 microcornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000482
32 multicystic kidney dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000003
33 renal agenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000104
34 upper lip pit 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100268
35 facial palsy 30 Very rare (1%) HP:0010628
36 hearing impairment 30 Very rare (1%) HP:0000365
37 postnatal growth retardation 30 Very rare (1%) HP:0008897
38 microphthalmia 30 Very rare (1%) HP:0000568
39 sparse hair 30 Very rare (1%) HP:0008070
40 retinal coloboma 30 Very rare (1%) HP:0000480
41 cleft of chin 30 Very rare (1%) HP:0011323
42 dimple chin 30 Very rare (1%) HP:0010751
43 seizure 30 HP:0001250
44 nystagmus 30 HP:0000639
45 kyphosis 30 HP:0002808
46 short neck 30 HP:0000470
47 hyperlordosis 30 HP:0003307
48 depressed nasal bridge 30 HP:0005280
49 hypertelorism 30 HP:0000316
50 abnormality of the dentition 30 HP:0000164

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
ptosis
cataract
hypertelorism
strabismus
myopia
more
Head And Neck Nose:
depressed nasal bridge
broad nasal tip
short nasal septum
divided nasal tip

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

Skeletal Spine:
kyphosis
lordosis

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.17 CHD7 EYA1 FOXD3 FOXE3 GPR63 MSX1
2 embryo MP:0005380 10.02 AP2B1 CHD7 EYA1 FOXD3 GPR63 IRF6
3 digestive/alimentary MP:0005381 9.92 AP2B1 CHD7 EYA1 FOXD3 IRF6 MSX1
4 craniofacial MP:0005382 9.91 AP2B1 CHD7 EYA1 FOXD3 IRF6 MSX1
5 limbs/digits/tail MP:0005371 9.88 CHD7 GPR63 IRF6 MSX1 TFAP2A TFAP2B
6 cardiovascular system MP:0005385 9.85 AP2B1 CHD7 EYA1 FOXD3 FOXE3 KCTD1
7 skeleton MP:0005390 9.65 AP2B1 CHD7 EYA1 FOXD3 GPR63 IRF6
8 mortality/aging MP:0010768 9.44 AP2B1 CHD7 EYA1 FOXD3 FOXE3 GPR63

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 28 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

Organs/tissues related to Branchiooculofacial Syndrome:

MalaCards : Thymus, Skin, Kidney, Eye, Retina, Colon, Heart
ODiseA: Kidney

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

(show top 50) (show all 158)
# Title Authors PMID Year
1
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 62 24 57 5
20358615 2010
2
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 62 24 57 5
19685247 2009
3
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. 62 24 57 5
19206157 2009
4
TFAP2A mutations result in branchio-oculo-facial syndrome. 62 24 57 5
18423521 2008
5
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 53 62 57 5
10767004 2000
6
Further delineation of the branchio-oculo-facial syndrome. 62 57 5
7747785 1995
7
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 62 24 5
25590586 2015
8
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. 62 24 57
25325185 2015
9
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 62 24 5
23578821 2013
10
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 62 24 57
19764023 2009
11
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. 62 57
20635357 2010
12
New ophthalmic manifestations of branchio-oculo-facial syndrome. 62 57
15734008 2005
13
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. 62 57
11152153 2001
14
Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. 62 57
9761567 1998
15
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? 62 57
8832722 1996
16
Branchio-oculo-facial syndrome: broadening the spectrum. 62 57
8160736 1994
17
Long-term evaluation of a child with the branchio-oculo-facial syndrome. 62 57
1456287 1992
18
Recurrence of orbital cysts in the branchio-oculo-facial syndrome. 62 57
1619642 1992
19
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. 62 57
1499589 1992
20
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 62 57
2354548 1990
21
New autosomal dominant branchio-oculo-facial syndrome. 62 57
3321995 1987
22
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. 5
30655312 2019
23
An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. 62 24
27607113 2016
24
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. 62 24
24783654 2014
25
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. 62 24
23495225 2013
26
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. 62 24
23307527 2013
27
[Branchio-oculo-facial syndrome]. 62 24
22963965 2012
28
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. 62 24
21539471 2012
29
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. 62 24
21728810 2011
30
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 62 24
21204207 2011
31
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. 62 24
19795528 2009
32
Branchio-oculo-facial syndrome. 62 24
10906521 2000
33
Delineation of two distinct 6p deletion syndromes. 57
10071194 1999
34
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 57
1576761 1992
35
Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. 57
6829601 1983
36
Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. 57
7200726 1982
37
Timing, rates and spectra of human germline mutation. 24
26656846 2016
38
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 24
25525159 2015
39
Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme. 24
17984226 2008
40
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
41
The AP-2alpha transcription factor regulates tumor cell migration and apoptosis. 24
17695722 2007
42
Transcription factor AP-2 and monoaminergic functions in the central nervous system. 24
15959839 2005
43
The AP-2 family of transcription factors. 24
16420676 2005
44
Loss of the AP-2alpha transcription factor is associated with the grade of human gliomas. 24
15671555 2005
45
An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. 24
15181535 2004
46
Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects. 24
14975722 2004
47
Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects. 24
14975718 2004
48
lockjaw encodes a zebrafish tfap2a required for early neural crest development. 24
14534133 2003
49
Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. 24
14534139 2003
50
Requirement for AP-2alpha in cardiac outflow tract morphogenesis. 24
11744375 2002

Variations for Branchiooculofacial Syndrome

ClinVar genetic disease variations for Branchiooculofacial Syndrome:

5 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAP2A NM_001372066.1(TFAP2A):c.892G>A (p.Glu298Lys) SNV Pathogenic
18465 rs267607108 GRCh37: 6:10400820-10400820
GRCh38: 6:10400587-10400587
2 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) SNV Pathogenic
18466 rs151344525 GRCh37: 6:10404795-10404795
GRCh38: 6:10404562-10404562
3 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser) SNV Pathogenic
192350 rs793888540 GRCh37: 6:10404856-10404856
GRCh38: 6:10404623-10404623
4 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp) SNV Pathogenic
192351 rs793888541 GRCh37: 6:10404864-10404864
GRCh38: 6:10404631-10404631
5 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly) SNV Pathogenic
547801 rs151344528 GRCh37: 6:10404745-10404745
GRCh38: 6:10404512-10404512
6 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) SNV Pathogenic
547802 rs151344528 GRCh37: 6:10404745-10404745
GRCh38: 6:10404512-10404512
7 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro) SNV Pathogenic
807514 rs1581262652 GRCh37: 6:10404759-10404759
GRCh38: 6:10404526-10404526
8 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro) SNV Pathogenic
547798 rs151344525 GRCh37: 6:10404795-10404795
GRCh38: 6:10404562-10404562
9 TFAP2A NM_001372066.1(TFAP2A):c.889+73T>C SNV Pathogenic
1197928 GRCh37: 6:10402652-10402652
GRCh38: 6:10402419-10402419
10 TFAP2A NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) DEL Pathogenic
523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
11 TFAP2A NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu) SNV Pathogenic
17938 rs121909575 GRCh37: 6:10402823-10402823
GRCh38: 6:10402590-10402590
12 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) SNV Pathogenic
7935 rs121909196 GRCh37: 8:72128968-72128968
GRCh38: 8:71216733-71216733
13 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.703_714del (p.Glu235_Arg238del) DEL Pathogenic
17939 GRCh37: 6:10404797-10404808
GRCh38: 6:10404564-10404575
14 TFAP2A NM_001372066.1(TFAP2A):c.832_848delinsAGGAT (p.Leu278_Arg283delinsArgIle) INDEL Pathogenic
17941 GRCh37: 6:10402766-10402782
GRCh38: 6:10402533-10402549
15 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) SNV Pathogenic/Likely Pathogenic
17937 rs121909574 GRCh37: 6:10404742-10404742
GRCh38: 6:10404509-10404509
16 TFAP2A NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) SNV Pathogenic/Likely Pathogenic
547803 rs151344531 GRCh37: 6:10402841-10402841
GRCh38: 6:10402608-10402608
17 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) SNV Likely Pathogenic
1698731 GRCh37: 6:10404824-10404824
GRCh38: 6:10404591-10404591
18 EYA1 NM_000503.6(EYA1):c.966+1G>C SNV Likely Pathogenic
1344642 GRCh37: 8:72183992-72183992
GRCh38: 8:71271757-71271757
19 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.739A>G (p.Asn247Asp) SNV Likely Pathogenic
1679402 GRCh37: 6:10404772-10404772
GRCh38: 6:10404539-10404539
20 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.719T>C (p.Leu240Pro) SNV Likely Pathogenic
547799 rs1554111734 GRCh37: 6:10404792-10404792
GRCh38: 6:10404559-10404559
21 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.755G>A (p.Gly252Asp) SNV Likely Pathogenic
547800 rs1554111717 GRCh37: 6:10404756-10404756
GRCh38: 6:10404523-10404523
22 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) SNV Likely Pathogenic
829802 rs151344527 GRCh37: 6:10404753-10404753
GRCh38: 6:10404520-10404520
23 TFAP2A NM_001372066.1(TFAP2A):c.1039T>C (p.Cys347Arg) SNV Likely Pathogenic
931468 rs1761890567 GRCh37: 6:10398931-10398931
GRCh38: 6:10398698-10398698
24 TFAP2A NC_000006.12:g.(?_10398710)_(10415642_?)del DEL Likely Pathogenic
981749 GRCh37:
GRCh38:
25 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.730G>A (p.Glu244Lys) SNV Likely Pathogenic
982959 rs151344526 GRCh37: 6:10404781-10404781
GRCh38: 6:10404548-10404548
26 TFAP2A NM_001372066.1(TFAP2A):c.94C>T (p.Gln32Ter) SNV Likely Pathogenic
1028093 rs1757903817 GRCh37: 6:10410526-10410526
GRCh38: 6:10410293-10410293
27 TFAP2A NM_001372066.1(TFAP2A):c.889+2dup DUP Likely Pathogenic
1033984 rs1762047599 GRCh37: 6:10402722-10402723
GRCh38: 6:10402489-10402490
28 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.767G>A (p.Arg256Gln) SNV Likely Pathogenic
522084 rs151344530 GRCh37: 6:10404744-10404744
GRCh38: 6:10404511-10404511
29 TFAP2A NM_001372066.1(TFAP2A):c.895G>C (p.Ala299Pro) SNV Likely Pathogenic
547804 rs1554110994 GRCh37: 6:10400817-10400817
GRCh38: 6:10400584-10400584
30 TFAP2A NM_001372066.1(TFAP2A):c.1320A>G (p.Ter440Trp) SNV Likely Pathogenic
547805 rs1554110673 GRCh37: 6:10398650-10398650
GRCh38: 6:10398417-10398417
31 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.712C>T (p.Arg238Trp) SNV Likely Pathogenic
559909 rs1554111749 GRCh37: 6:10404799-10404799
GRCh38: 6:10404566-10404566
32 TFAP2A NM_001372066.1(TFAP2A):c.407_413dup (p.Pro139fs) DUP Likely Pathogenic
547796 rs1554112492 GRCh37: 6:10410206-10410207
GRCh38: 6:10409973-10409974
33 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.703G>A (p.Glu235Lys) SNV Likely Pathogenic
547797 rs1554111751 GRCh37: 6:10404808-10404808
GRCh38: 6:10404575-10404575
34 TFAP2A NM_001372066.1(TFAP2A):c.820A>G (p.Ile274Val) SNV Uncertain Significance
973329 rs1762050441 GRCh37: 6:10402794-10402794
GRCh38: 6:10402561-10402561
35 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val) SNV Uncertain Significance
1301619 GRCh37: 6:10404930-10404930
GRCh38: 6:10404697-10404697
36 TFAP2A-AS2, TFAP2A NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln) SNV Likely Benign
802190 rs1581265556 GRCh37: 6:10407071-10407071
GRCh38: 6:10406838-10406838
37 TFAP2A NM_001372066.1(TFAP2A):c.1032-44T>A SNV Benign
1273812 GRCh37: 6:10398982-10398982
GRCh38: 6:10398749-10398749

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.

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 chromatin GO:0000785 9.66 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.46 FOXD3 FOXE3 IRF6 MSX1 TFAP2A TFAP2B
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A MSX1
3 transcription by RNA polymerase II GO:0006366 10.1 TFAP2D TFAP2B MSX1 FOXE3 CHD7
4 regulation of cell population proliferation GO:0042127 10.07 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
5 inner ear morphogenesis GO:0042472 9.91 TFAP2A EYA1 CHD7
6 roof of mouth development GO:0060021 9.81 CHD7 IRF6 MSX1 TFAP2A VAX1
7 camera-type eye development GO:0043010 9.8 VAX1 FOXE3 CHD7
8 aorta morphogenesis GO:0035909 9.8 CHD7 EYA1 TFAP2B
9 semicircular canal morphogenesis GO:0048752 9.78 EYA1 CHD7
10 regulation of DNA-templated transcription GO:0006355 9.73 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A
11 ear morphogenesis GO:0042471 9.43 EYA1 CHD7
12 anatomical structure development GO:0048856 9.4 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.36 CHD7 FOXD3 FOXE3 IRF6 TFAP2A TFAP2B
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.26 FOXD3 FOXE3 IRF6 MSX1 TFAP2A TFAP2B
3 DNA binding GO:0003677 10.25 CHD7 FOXD3 FOXE3 IRF6 MSX1 TFAP2A
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.21 IRF6 TFAP2E TFAP2C TFAP2B TFAP2A MSX1
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 10.16 FOXD3 MSX1 TFAP2A TFAP2C VAX1
6 sequence-specific DNA binding GO:0043565 10.07 TFAP2B TFAP2A MSX1 IRF6 FOXE3 FOXD3
7 sequence-specific double-stranded DNA binding GO:1990837 10.06 FOXD3 IRF6 MSX1 TFAP2A TFAP2B TFAP2C
8 RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0000977 9.8 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A MSX1
9 DNA-binding transcription factor activity GO:0003700 9.47 VAX1 TFAP2E TFAP2D TFAP2C TFAP2B TFAP2A

Sources for Branchiooculofacial Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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