BOFS
MCID: BRN003
MIFTS: 54

Branchiooculofacial Syndrome (BOFS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Branchiooculofacial Syndrome

MalaCards integrated aliases for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 57 12 24 53 74 37 29 13 6 15 40
Branchio-Oculo-Facial Syndrome 75 25 59 74 55 72
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 57 53 25 74
Bof Syndrome 57 24 74 55
Bofs 57 25 59 74
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 57 53 74
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 57 25
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 53 74
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 25
Bofs Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
branchio-oculo-facial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
normal intelligence in majority


HPO:

32
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:



External Ids:

Disease Ontology 12 DOID:0050691
OMIM 57 113620
KEGG 37 H00817
MeSH 44 D019280
ICD10 via Orphanet 34 Q18.8
UMLS via Orphanet 73 C0376524
Orphanet 59 ORPHA1297
MedGen 42 C0376524
UMLS 72 C0376524

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 cleft lip/palate. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Ectoderm Differentiation. Affiliated tissues include skin, kidney and eye, and related phenotypes are everted lower lip vermilion and atypical scarring of skin

Disease Ontology : 12 An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

NIH Rare Diseases : 53 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 mutations in the TFAP2A gene and inherited as an autosomal dominant trait.

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)

KEGG : 37
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 : 74 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 : 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 76)
# Related Disease Score Top Affiliating Genes
1 lacrimal duct obstruction 31.5 TFAP2A EYA1
2 cleft lip/palate 30.3 TBX22 MSX1 IRF6 BMP4
3 orofacial cleft 30.2 MSX1 IRF6 BMP4
4 cleft lip 29.4 TFAP2A MSX1 IRF6 GRHL3 BMP4
5 microphthalmia 29.3 TFAP2A SALL1 PAX3 BMP4
6 cleft palate, isolated 28.7 TFAP2A TBX22 MSX1 MAFB IRF6 GRHL3
7 branchiootic syndrome 1 10.5
8 cleft soft palate 10.5 TBX22 GRHL3
9 cocoon syndrome 10.5 IRF6 GRHL3
10 popliteal pterygium syndrome 10.4 TFAP2A IRF6 GRHL3
11 cleft lip and alveolus 10.4 MSX1 IRF6
12 van der woude syndrome 1 10.4 TFAP2A IRF6 GRHL3
13 catatrichy 10.4
14 ear malformation 10.4
15 polydactyly 10.4
16 ptosis 10.4
17 isolated cleft lip 10.4 MSX1 IRF6
18 branchial cleft anomalies 10.3
19 branchiootorenal syndrome 1 10.3
20 lacrimal duct defect 10.3
21 tetralogy of fallot 10.3
22 renal hypodysplasia/aplasia 1 10.3
23 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
24 pulmonic stenosis 10.3
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
26 hypertrophic scars 10.3
27 arrhythmogenic right ventricular cardiomyopathy 10.3
28 sensorineural hearing loss 10.3
29 hydronephrosis 10.3
30 dermoid cyst 10.3
31 cystic teratoma 10.3
32 hypertrichosis 10.3
33 holoprosencephaly 10.3
34 mature teratoma 10.3
35 cataract 10.3
36 waardenburg's syndrome 10.3
37 dominant cleft palate 10.3
38 encephalocele 10.3
39 meningoencephalocele 10.3
40 cleft lip with or without cleft palate 10.3
41 multicystic dysplastic kidney 10.3
42 combined hamartoma of the retina and retinal pigment epithelium 10.3
43 unilateral multicystic dysplastic kidney 10.3
44 colobomatous microphthalmia 10.3
45 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 PKP2 DSP
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 PKP2 DSP
47 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 PKP2 DSP
48 naxos disease 10.1 PKP2 DSP
49 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
50 nipples, supernumerary 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:

59 32 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
2 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
3 abnormality of the pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0000377
4 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
5 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
6 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002
7 hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001028
8 preauricular pit 59 32 very rare (1%) Very frequent (99-80%) HP:0004467
9 postauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004464
10 supraauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0008606
11 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
12 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
13 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
14 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
15 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
16 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
17 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
18 intrauterine growth retardation 59 32 very rare (1%) Frequent (79-30%) HP:0001511
19 premature graying of hair 59 32 very rare (1%) Frequent (79-30%) HP:0002216
20 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
21 iris coloboma 59 32 very rare (1%) Frequent (79-30%) HP:0000612
22 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
23 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
24 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
25 nasolacrimal duct obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0000579
26 fingernail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100798
27 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
28 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
29 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
30 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
31 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
32 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
33 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
34 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
35 upper lip pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0100268
36 facial palsy 32 very rare (1%) HP:0010628
37 hearing impairment 32 very rare (1%) HP:0000365
38 postnatal growth retardation 32 very rare (1%) HP:0008897
39 microphthalmia 32 very rare (1%) HP:0000568
40 sparse hair 32 very rare (1%) HP:0008070
41 retinal coloboma 32 very rare (1%) HP:0000480
42 cleft of chin 32 very rare (1%) HP:0011323
43 dimple chin 32 very rare (1%) HP:0010751
44 malar flattening 32 HP:0000272
45 hypertelorism 32 HP:0000316
46 low-set ears 32 HP:0000369
47 short neck 32 HP:0000470
48 nystagmus 32 HP:0000639
49 seizures 32 HP:0001250
50 kyphosis 32 HP:0002808

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
cataract
strabismus
myopia
more
Skeletal Hands:
clinodactyly
single transverse palmar crease
polydactyly
hypoplastic thumbs

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

Head And Neck Mouth:
cleft palate
pseudocleft
incomplete/complete cleft lip
lip pits

Skin Nails Hair Hair:
premature graying of hair

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 Ears:
low-set ears
microtia
preauricular pit
posteriorly rotated ears
hypoplastic superior helix
more
Skeletal Spine:
kyphosis
lordosis

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
small forehead

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:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 ARHGEF28 BMP4 DACH1 DSP EYA1 GRHL3
2 cardiovascular system MP:0005385 10.34 BMP4 DSP EYA1 GRHL3 GTF2I GTF2IRD1
3 behavior/neurological MP:0005386 10.31 BMP4 DACH1 EYA1 GRHL3 GTF2I GTF2IRD1
4 craniofacial MP:0005382 10.31 BMP4 DSP EYA1 GRHL3 GTF2I GTF2IRD1
5 embryo MP:0005380 10.29 BMP4 DSP EYA1 GRHL3 GTF2I GTF2IRD1
6 growth/size/body region MP:0005378 10.29 ARHGEF28 BMP4 DSP EYA1 GRHL3 GTF2I
7 mortality/aging MP:0010768 10.24 BMP4 DACH1 DSP EYA1 GRHL3 GTF2I
8 digestive/alimentary MP:0005381 10.22 BMP4 DSP EYA1 GRHL3 IRF6 MSX1
9 endocrine/exocrine gland MP:0005379 10.1 BMP4 DACH1 EYA1 GTF2I MAFB MSX1
10 hearing/vestibular/ear MP:0005377 10.06 BMP4 EYA1 IRF6 MAFB MSX1 PAX3
11 integument MP:0010771 10.03 BMP4 DSP GRHL3 GTF2IRD1 IRF6 MSX1
12 nervous system MP:0003631 10.03 BMP4 DACH1 DSP EYA1 GRHL3 GTF2I
13 limbs/digits/tail MP:0005371 9.95 BMP4 GRHL3 IRF6 MSX1 PAX3 SALL1
14 normal MP:0002873 9.9 ARHGEF28 BMP4 EYA1 GRHL3 GTF2I MAFB
15 muscle MP:0005369 9.87 BMP4 DSP EYA1 GTF2IRD1 MSX1 PAX3
16 respiratory system MP:0005388 9.61 BMP4 DACH1 EYA1 GTF2IRD1 MAFB MSX1
17 skeleton MP:0005390 9.36 BMP4 EYA1 GRHL3 GTF2IRD1 IRF6 MAFB

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:

41
Skin, Kidney, Eye, Thymus, Bone, Retina, Colon

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. 38 4 8 71
20358615 2010
2
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 38 4 8 71
19685247 2009
3
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. 38 4 8 71
19206157 2009
4
TFAP2A mutations result in branchio-oculo-facial syndrome. 38 4 8 71
18423521 2008
5
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 9 38 8 71
10767004 2000
6
Further delineation of the branchio-oculo-facial syndrome. 38 8 71
7747785 1995
7
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. 38 4 8
25325185 2015
8
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. 38 4 8
19764023 2009
9
Branchiooculofacial Syndrome 38 71
21634087 2011
10
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. 38 8
20635357 2010
11
New ophthalmic manifestations of branchio-oculo-facial syndrome. 38 8
15734008 2005
12
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. 38 8
11152153 2001
13
Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. 38 8
9761567 1998
14
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? 38 8
8832722 1996
15
Branchio-oculo-facial syndrome: broadening the spectrum. 38 8
8160736 1994
16
Long-term evaluation of a child with the branchio-oculo-facial syndrome. 38 8
1456287 1992
17
Recurrence of orbital cysts in the branchio-oculo-facial syndrome. 38 8
1619642 1992
18
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. 38 8
1499589 1992
19
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 38 8
2354548 1990
20
New autosomal dominant branchio-oculo-facial syndrome. 38 8
3321995 1987
21
An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. 38 4
27607113 2016
22
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 38 4
25590586 2015
23
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. 38 4
24783654 2014
24
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. 38 4
23578821 2013
25
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. 38 4
23495225 2013
26
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. 38 4
23307527 2013
27
[Branchio-oculo-facial syndrome]. 38 4
22963965 2012
28
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. 38 4
21539471 2012
29
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. 38 4
21728810 2011
30
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 38 4
21204207 2011
31
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. 38 4
19795528 2009
32
Microphthalmia/Anophthalmia/Coloboma Spectrum 71
20301552 2004
33
Branchio-oculo-facial syndrome. 38 4
10906521 2000
34
Delineation of two distinct 6p deletion syndromes. 8
10071194 1999
35
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 8
1576761 1992
36
Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. 8
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. 8
7200726 1982
38
Timing, rates and spectra of human germline mutation. 4
26656846 2016
39
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 4
25525159 2015
40
Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme. 4
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. 4
17258188 2007
42
The AP-2alpha transcription factor regulates tumor cell migration and apoptosis. 4
17695722 2007
43
Transcription factor AP-2 and monoaminergic functions in the central nervous system. 4
15959839 2005
44
Loss of the AP-2alpha transcription factor is associated with the grade of human gliomas. 4
15671555 2005
45
The AP-2 family of transcription factors. 4
16420676 2005
46
An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. 4
15181535 2004
47
Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects. 4
14975718 2004
48
Wnt1-Cre-mediated deletion of AP-2alpha causes multiple neural crest-related defects. 4
14975722 2004
49
lockjaw encodes a zebrafish tfap2a required for early neural crest development. 4
14534133 2003
50
Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. 4
14534139 2003

Variations for Branchiooculofacial Syndrome

ClinVar genetic disease variations for Branchiooculofacial Syndrome:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TFAP2A NM_001042425.2(TFAP2A): c.751A> G (p.Arg251Gly) single nucleotide variant Pathogenic rs121909574 6:10404742-10404742 6:10404509-10404509
2 TFAP2A NM_003220.3(TFAP2A): c.785G> A (p.Gly262Glu) single nucleotide variant Pathogenic rs121909575 6:10402823-10402823 6:10402590-10402590
3 TFAP2A TFAP2A, 12-BP DEL, NT697 deletion Pathogenic
4 TFAP2A TFAP2A, PHE319SER single nucleotide variant Pathogenic
5 TFAP2A TFAP2A, 18-BP DEL/6-BP INS, NT828 indel Pathogenic
6 TFAP2A NM_003220.3(TFAP2A): c.886G> A (p.Glu296Lys) single nucleotide variant Pathogenic rs267607108 6:10400820-10400820 6:10400587-10400587
7 TFAP2A NM_003220.3(TFAP2A): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic rs151344525 6:10404795-10404795 6:10404562-10404562
8 TFAP2A NM_001042425.2(TFAP2A): c.637C> A (p.Arg213Ser) single nucleotide variant Pathogenic rs793888540 6:10404856-10404856 6:10404623-10404623
9 TFAP2A NM_001042425.2(TFAP2A): c.629T> A (p.Val210Asp) single nucleotide variant Pathogenic rs793888541 6:10404864-10404864 6:10404631-10404631
10 TFAP2A NM_003220.3(TFAP2A): c.710G> C (p.Arg237Pro) single nucleotide variant Pathogenic rs151344525 6:10404795-10404795 6:10404562-10404562
11 TFAP2A NM_003220.3(TFAP2A): c.760C> G (p.Arg254Gly) single nucleotide variant Pathogenic rs151344528 6:10404745-10404745 6:10404512-10404512
12 TFAP2A NM_003220.3(TFAP2A): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs151344528 6:10404745-10404745 6:10404512-10404512
13 TFAP2A NM_003220.3(TFAP2A): c.767C> T (p.Ala256Val) single nucleotide variant Pathogenic rs151344531 6:10402841-10402841 6:10402608-10402608
14 TFAP2A NM_003220.3(TFAP2A): c.889G> C (p.Ala297Pro) single nucleotide variant Likely pathogenic rs1554110994 6:10400817-10400817 6:10400584-10400584
15 TFAP2A NM_003220.3(TFAP2A): c.1314A> G (p.Ter438Trp) single nucleotide variant Likely pathogenic rs1554110673 6:10398650-10398650 6:10398417-10398417
16 TFAP2A NM_003220.3(TFAP2A): c.713T> C (p.Leu238Pro) single nucleotide variant Likely pathogenic rs1554111734 6:10404792-10404792 6:10404559-10404559
17 TFAP2A NM_003220.3(TFAP2A): c.749G> A (p.Gly250Asp) single nucleotide variant Likely pathogenic rs1554111717 6:10404756-10404756 6:10404523-10404523
18 TFAP2A NM_003220.3(TFAP2A): c.761G> A (p.Arg254Gln) single nucleotide variant Likely pathogenic rs151344530 6:10404744-10404744 6:10404511-10404511
19 TFAP2A NM_001032280.3(TFAP2A): c.688C> T (p.Arg230Trp) single nucleotide variant Likely pathogenic rs1554111749 6:10404799-10404799 6:10404566-10404566
20 TFAP2A NM_003220.3(TFAP2A): c.401_407dup (p.Pro137fs) duplication Likely pathogenic rs1554112492 6:10410207-10410213 6:10409974-10409980
21 TFAP2A NM_003220.3(TFAP2A): c.697G> A (p.Glu233Lys) single nucleotide variant Likely pathogenic rs1554111751 6:10404808-10404808 6:10404575-10404575

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

74
# 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

Pathways related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 MSX1 IRF6 BMP4
2 11.42 TFAP2A PAX3 MAFB BMP4
3 10.93 TFAP2A PAX3 MSX1 BMP4
4 10.06 TFAP2A IRF6

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 nucleoplasm GO:0005654 9.7 UTP15 TFAP2A SALL1 PKP2 PAX3 MSX1
2 nucleus GO:0005634 9.55 UTP15 TFAP2A TBX22 SALL1 PKP2 PAX3
3 desmosome GO:0030057 9.16 PKP2 DSP

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TFAP2A TBX22 SALL1 MSX1 KCTD1 DACH1
2 heart development GO:0007507 9.88 SALL1 PKP2 MSX1 BMP4
3 positive regulation of transcription, DNA-templated GO:0045893 9.87 TFAP2A SALL1 PAX3 IRF6 GRHL3 EYA1
4 regulation of transcription, DNA-templated GO:0006355 9.85 TFAP2A TBX22 SALL1 PAX3 MSX1 MAFB
5 negative regulation of transcription, DNA-templated GO:0045892 9.8 TFAP2A TBX22 SALL1 MSX1 KCTD1 DACH1
6 sensory perception of sound GO:0007605 9.79 TFAP2A PAX3 EYA1
7 kidney development GO:0001822 9.78 TFAP2A SALL1 BMP4
8 inner ear morphogenesis GO:0042472 9.72 TFAP2A MAFB EYA1
9 embryonic digit morphogenesis GO:0042733 9.69 SALL1 MSX1 BMP4
10 branching involved in ureteric bud morphogenesis GO:0001658 9.63 SALL1 EYA1 BMP4
11 cochlea morphogenesis GO:0090103 9.62 GRHL3 EYA1
12 middle ear morphogenesis GO:0042474 9.61 MSX1 EYA1
13 ureteric bud development GO:0001657 9.61 SALL1 EYA1 BMP4
14 positive regulation of transcription by RNA polymerase II GO:0045944 9.61 TFAP2A SALL1 PAX3 MSX1 MAFB IRF6
15 eyelid development in camera-type eye GO:0061029 9.6 TFAP2A GRHL3
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.59 MSX1 BMP4
17 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.58 PKP2 DSP
18 outer ear morphogenesis GO:0042473 9.57 SALL1 EYA1
19 negative regulation of transcription by competitive promoter binding GO:0010944 9.56 TFAP2A DACH1
20 pituitary gland development GO:0021983 9.54 SALL1 MSX1 BMP4
21 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.52 SALL1 BMP4
22 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.49 PKP2 DSP
23 BMP signaling pathway involved in heart development GO:0061312 9.48 MSX1 BMP4
24 transcription by RNA polymerase II GO:0006366 8.8 PAX3 GTF2IRD1 GTF2I
25 multicellular organism development GO:0007275 10.08 TBX22 PAX3 MSX1 GTF2IRD1 EYA1 DACH1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.92 TFAP2A TBX22 SALL1 PAX3 MSX1 MAFB
2 sequence-specific DNA binding GO:0043565 9.73 TFAP2A PAX3 MSX1 MAFB IRF6 GRHL3
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 TFAP2A TBX22 MSX1 DACH1
4 DNA binding GO:0003677 9.7 TFAP2A TBX22 SALL1 PAX3 MSX1 MAFB
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.61 TBX22 MSX1 DACH1
6 DNA-binding transcription factor activity GO:0003700 9.32 TFAP2A TBX22 SALL1 PAX3 MAFB IRF6
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.16 PKP2 DSP
8 protein binding GO:0005515 10.3 UTP15 TFAP2A TBX22 SALL1 PKP2 PAX3

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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