BOFS
MCID: BRN003
MIFTS: 55

Branchiooculofacial Syndrome (BOFS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Branchiooculofacial Syndrome

MalaCards integrated aliases for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 58 12 25 54 76 38 30 13 6 15 41
Branchio-Oculo-Facial Syndrome 77 26 60 76 56 74
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 58 54 26 76
Bof Syndrome 58 25 76 56
Bofs 58 26 60 76
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 58 54 76
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 58 26
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 54 76
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 26
Bofs Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
branchio-oculo-facial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
normal intelligence in majority


HPO:

33
branchiooculofacial syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:



Summaries for Branchiooculofacial Syndrome

OMIM : 58 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)

MalaCards based summary : Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to cleft lip and microphthalmia. 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, eye and thymus, 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 all 43)
# Related Disease Score Top Affiliating Genes
1 cleft lip 30.2 BMP4 GRHL3 IRF6 MSX1 TFAP2A
2 microphthalmia 29.9 BMP4 PAX3 SALL1 TFAP2A
3 catatrichy 10.4
4 ear malformation 10.4
5 ankyloglossia 10.4 IRF6 TBX22
6 cleft soft palate 10.3 GRHL3 TBX22
7 popliteal pterygium syndrome 10.3 GRHL3 IRF6 TFAP2A
8 pulmonic stenosis 10.3
9 polydactyly 10.3
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
11 arrhythmogenic right ventricular cardiomyopathy 10.3
12 branchiootorenal syndrome 10.3
13 colobomatous microphthalmia 10.3
14 van der woude syndrome 1 10.3 GRHL3 IRF6 TFAP2A
15 cocoon syndrome 10.3 GRHL3 IRF6
16 cleft lip and alveolus 10.3 IRF6 MSX1
17 lacrimal duct obstruction 10.2 EYA1 TFAP2A
18 isolated cleft lip 10.2 IRF6 MSX1
19 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP PKP2
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP PKP2
21 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSP PKP2
22 ectopic thymus 10.1
23 naxos disease 10.1 DSP PKP2
24 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 DSP PKP2
25 split-hand/foot malformation 1 10.0
26 focal dermal hypoplasia 10.0
27 ectodermal dysplasia 10.0
28 spinal muscular atrophy 10.0
29 heart disease 10.0
30 proximal spinal muscular atrophy 10.0
31 isolated split hand-split foot malformation 10.0
32 arrhythmogenic right ventricular dysplasia, familial, 8 10.0 DSP PKP2
33 tooth size 10.0 BMP4 MSX1
34 deafness, autosomal dominant 10 10.0 DACH1 EYA1 PAX3
35 syngnathia 9.9 BMP4 IRF6 MSX1
36 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 DSP PKP2
37 cleft palate with or without ankyloglossia, x-linked 9.9 BMP4 MSX1 TBX22
38 hard palate cancer 9.9 MSX1 TBX22
39 orofacial cleft 9.9 BMP4 IRF6 MSX1
40 physical disorder 9.8 BMP4 IRF6 MSX1 TBX22
41 cleft lip/palate 9.8 BMP4 IRF6 MSX1 TBX22
42 tooth agenesis 9.6 BMP4 DSP IRF6 MSX1
43 cleft palate, isolated 9.4 BMP4 GRHL3 IRF6 MAFB MSX1 TBX22

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:

60 33 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
2 atypical scarring of skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000987
3 abnormality of the pinna 60 33 hallmark (90%) Very frequent (99-80%) HP:0000377
4 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
5 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
6 deep philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002002
7 preauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0004467
8 hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001028
9 postauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0004464
10 supraauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0008606
11 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
12 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
13 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
14 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
15 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
16 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
17 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
18 premature graying of hair 60 33 frequent (33%) Frequent (79-30%) HP:0002216
19 non-midline cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100335
20 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
21 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
22 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
23 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
24 nasolacrimal duct obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0000579
25 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
26 fingernail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100798
27 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
28 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
29 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
30 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
31 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
32 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
33 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
34 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
35 upper lip pit 60 33 occasional (7.5%) Occasional (29-5%) HP:0100268
36 postnatal growth retardation 33 very rare (1%) HP:0008897
37 malar flattening 33 HP:0000272
38 hypertelorism 33 HP:0000316
39 low-set ears 33 HP:0000369
40 short neck 33 HP:0000470
41 nystagmus 33 HP:0000639
42 seizures 33 HP:0001250
43 kyphosis 33 HP:0002808
44 hyperlordosis 33 HP:0003307
45 depressed nasal bridge 33 HP:0005280
46 abnormality of the dentition 33 HP:0000164
47 microtia 33 HP:0008551
48 microcephaly 33 HP:0000252
49 sensorineural hearing impairment 33 HP:0000407
50 gastroesophageal reflux 33 HP:0002020

Symptoms via clinical synopsis from OMIM:

58
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
divided nasal tip
short nasal septum

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

Chest Breasts:
widely spaced nipples
supernumerary nipples

Head And Neck Teeth:
dental abnormalities

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

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

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

Head And Neck Neck:
branchial anomalies

Skin Nails Hair Nails:
hypoplastic fingernails

Immunology:
ectopic thymus

Clinical features from OMIM:

113620

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

47 (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 30 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

42
Skin, Eye, Thymus, Kidney, Colon, Retina, Bone

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome. ( 29760939 )
2018
2
A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features. ( 30596055 )
2018
3
An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. ( 27607113 )
2016
4
Branchiootorenal and branchiooculofacial syndrome. ( 25569411 )
2015
5
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement. ( 25325184 )
2015
6
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. ( 25325185 )
2015
7
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. ( 25590586 )
2015
8
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. ( 24783654 )
2014
9
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. ( 23307527 )
2013
10
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. ( 23495225 )
2013
11
Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain. ( 23578821 )
2013
12
Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family. ( 23106675 )
2012
13
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. ( 21539471 )
2012
14
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene. ( 22191992 )
2012
15
Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst. ( 22276601 )
2012
16
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. ( 21204207 )
2011
17
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. ( 21728810 )
2011
18
Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome. ( 20358615 )
2010
19
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature. ( 20461149 )
2010
20
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. ( 20635357 )
2010
21
Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene. ( 21250552 )
2010
22
FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish. ( 22140378 )
2010
23
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. ( 19206157 )
2009
24
Branchio-oculo-facial syndrome (BOFS) and congenital heart defects. ( 19360235 )
2009
25
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. ( 19764023 )
2009
26
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. ( 19795528 )
2009
27
A Case of Branchio-oculo-facial Syndrome. ( 20523806 )
2009
28
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. ( 19685247 )
2009
29
TFAP2A mutations result in branchio-oculo-facial syndrome. ( 18423521 )
2008
30
Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS). ( 17676609 )
2007
31
Bilateral dermal thymus of neck in branchio-oculo-facial syndrome. ( 17113525 )
2006
32
New ophthalmic manifestations of branchio-oculo-facial syndrome. ( 15734008 )
2005
33
Branchio-oculo-facial syndrome with the atresia of external ear. ( 15936829 )
2005
34
Branchio-oculo-facial syndrome with bilateral linear scars of the neck. ( 16101871 )
2005
35
Branchio-oculo-facial syndrome. ( 16131778 )
2005
36
Branchio-oculo-facial syndrome with ectodermal parathyroid tissue. ( 16360526 )
2005
37
Branchio-oculo-facial syndrome with valvular pulmonic stenosis. ( 15591681 )
2004
38
Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome. ( 12567424 )
2003
39
Thymic tissue in the skin: a clue to the diagnosis of the branchio-oculo-facial syndrome: report of two cases. ( 12598914 )
2003
40
Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. ( 11826031 )
2002
41
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. ( 11152153 )
2001
42
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. ( 10767004 )
2000
43
Branchio-oculo-facial syndrome. ( 10906521 )
2000
44
The gene for branchio-oculo-facial syndrome does not colocalize to the EYA1-4 genes. ( 10991692 )
2000
45
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome. ( 11043436 )
2000
46
Branchio-oculo-facial syndrome: case report. ( 10418222 )
1999
47
Ocular anomalies in the branchio-oculo-facial syndrome. ( 9524030 )
1998
48
Prenatal findings of branchio-oculo-facial syndrome. ( 9669308 )
1998
49
Branchio-oculo-facial syndrome associated with a white forelock. ( 9689999 )
1998
50
Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. ( 9761567 )
1998

Variations for Branchiooculofacial Syndrome

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

76
# 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

ClinVar genetic disease variations for Branchiooculofacial Syndrome:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAP2A NM_001042425.1(TFAP2A): c.751A> G (p.Arg251Gly) single nucleotide variant Pathogenic rs121909574 GRCh37 Chromosome 6, 10404742: 10404742
2 TFAP2A NM_001042425.1(TFAP2A): c.751A> G (p.Arg251Gly) single nucleotide variant Pathogenic rs121909574 GRCh38 Chromosome 6, 10404509: 10404509
3 TFAP2A NM_001042425.1(TFAP2A): c.773G> A (p.Gly258Glu) single nucleotide variant Pathogenic rs121909575 GRCh37 Chromosome 6, 10402823: 10402823
4 TFAP2A NM_001042425.1(TFAP2A): c.773G> A (p.Gly258Glu) single nucleotide variant Pathogenic rs121909575 GRCh38 Chromosome 6, 10402590: 10402590
5 TFAP2A TFAP2A, 12-BP DEL, NT697 deletion Pathogenic
6 TFAP2A TFAP2A, PHE319SER single nucleotide variant Pathogenic
7 TFAP2A TFAP2A, 18-BP DEL/6-BP INS, NT828 indel Pathogenic
8 TFAP2A NM_001042425.1(TFAP2A): c.637C> A (p.Arg213Ser) single nucleotide variant Pathogenic rs793888540 GRCh37 Chromosome 6, 10404856: 10404856
9 TFAP2A NM_001042425.1(TFAP2A): c.637C> A (p.Arg213Ser) single nucleotide variant Pathogenic rs793888540 GRCh38 Chromosome 6, 10404623: 10404623
10 TFAP2A NM_001042425.1(TFAP2A): c.629T> A (p.Val210Asp) single nucleotide variant Pathogenic rs793888541 GRCh37 Chromosome 6, 10404864: 10404864
11 TFAP2A NM_001042425.1(TFAP2A): c.629T> A (p.Val210Asp) single nucleotide variant Pathogenic rs793888541 GRCh38 Chromosome 6, 10404631: 10404631
12 TFAP2A NM_001032280.2(TFAP2A): c.688C> T (p.Arg230Trp) single nucleotide variant Likely pathogenic rs1554111749 GRCh38 Chromosome 6, 10404566: 10404566
13 TFAP2A NM_001032280.2(TFAP2A): c.688C> T (p.Arg230Trp) single nucleotide variant Likely pathogenic rs1554111749 GRCh37 Chromosome 6, 10404799: 10404799
14 TFAP2A NM_003220.2(TFAP2A): c.401_407dup (p.Pro137Alafs) duplication Likely pathogenic rs1554112492 GRCh38 Chromosome 6, 10409974: 10409980
15 TFAP2A NM_003220.2(TFAP2A): c.401_407dup (p.Pro137Alafs) duplication Likely pathogenic rs1554112492 GRCh37 Chromosome 6, 10410207: 10410213
16 TFAP2A NM_003220.2(TFAP2A): c.697G> A (p.Glu233Lys) single nucleotide variant Likely pathogenic rs1554111751 GRCh37 Chromosome 6, 10404808: 10404808
17 TFAP2A NM_003220.2(TFAP2A): c.697G> A (p.Glu233Lys) single nucleotide variant Likely pathogenic rs1554111751 GRCh38 Chromosome 6, 10404575: 10404575
18 TFAP2A NM_003220.2(TFAP2A): c.710G> C (p.Arg237Pro) single nucleotide variant Pathogenic rs151344525 GRCh38 Chromosome 6, 10404562: 10404562
19 TFAP2A NM_003220.2(TFAP2A): c.710G> C (p.Arg237Pro) single nucleotide variant Pathogenic rs151344525 GRCh37 Chromosome 6, 10404795: 10404795
20 TFAP2A NM_003220.2(TFAP2A): c.713T> C (p.Leu238Pro) single nucleotide variant Likely pathogenic rs1554111734 GRCh37 Chromosome 6, 10404792: 10404792
21 TFAP2A NM_003220.2(TFAP2A): c.713T> C (p.Leu238Pro) single nucleotide variant Likely pathogenic rs1554111734 GRCh38 Chromosome 6, 10404559: 10404559
22 TFAP2A NM_003220.2(TFAP2A): c.749G> A (p.Gly250Asp) single nucleotide variant Likely pathogenic rs1554111717 GRCh37 Chromosome 6, 10404756: 10404756
23 TFAP2A NM_003220.2(TFAP2A): c.749G> A (p.Gly250Asp) single nucleotide variant Likely pathogenic rs1554111717 GRCh38 Chromosome 6, 10404523: 10404523
24 TFAP2A NM_003220.2(TFAP2A): c.760C> G (p.Arg254Gly) single nucleotide variant Pathogenic rs151344528 GRCh38 Chromosome 6, 10404512: 10404512
25 TFAP2A NM_003220.2(TFAP2A): c.760C> G (p.Arg254Gly) single nucleotide variant Pathogenic rs151344528 GRCh37 Chromosome 6, 10404745: 10404745
26 TFAP2A NM_003220.2(TFAP2A): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs151344528 GRCh37 Chromosome 6, 10404745: 10404745
27 TFAP2A NM_003220.2(TFAP2A): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs151344528 GRCh38 Chromosome 6, 10404512: 10404512
28 TFAP2A NM_003220.2(TFAP2A): c.767C> T (p.Ala256Val) single nucleotide variant Pathogenic rs151344531 GRCh38 Chromosome 6, 10402608: 10402608
29 TFAP2A NM_003220.2(TFAP2A): c.767C> T (p.Ala256Val) single nucleotide variant Pathogenic rs151344531 GRCh37 Chromosome 6, 10402841: 10402841
30 TFAP2A NM_003220.2(TFAP2A): c.889G> C (p.Ala297Pro) single nucleotide variant Likely pathogenic rs1554110994 GRCh37 Chromosome 6, 10400817: 10400817
31 TFAP2A NM_003220.2(TFAP2A): c.889G> C (p.Ala297Pro) single nucleotide variant Likely pathogenic rs1554110994 GRCh38 Chromosome 6, 10400584: 10400584
32 TFAP2A NM_003220.2(TFAP2A): c.1314A> G (p.Ter438Trp) single nucleotide variant Likely pathogenic rs1554110673 GRCh38 Chromosome 6, 10398417: 10398417
33 TFAP2A NM_003220.2(TFAP2A): c.1314A> G (p.Ter438Trp) single nucleotide variant Likely pathogenic rs1554110673 GRCh37 Chromosome 6, 10398650: 10398650
34 TFAP2A NM_003220.2(TFAP2A): c.761G> A (p.Arg254Gln) single nucleotide variant Likely pathogenic rs151344530 GRCh37 Chromosome 6, 10404744: 10404744
35 TFAP2A NM_003220.2(TFAP2A): c.761G> A (p.Arg254Gln) single nucleotide variant Likely pathogenic rs151344530 GRCh38 Chromosome 6, 10404511: 10404511
36 TFAP2A NM_003220.2(TFAP2A): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic rs151344525 GRCh38 Chromosome 6, 10404562: 10404562
37 TFAP2A NM_003220.2(TFAP2A): c.710G> A (p.Arg237Gln) single nucleotide variant Pathogenic rs151344525 GRCh37 Chromosome 6, 10404795: 10404795
38 TFAP2A NM_001042425.1(TFAP2A): c.874G> A (p.Glu292Lys) single nucleotide variant Pathogenic rs267607108 GRCh38 Chromosome 6, 10400587: 10400587
39 TFAP2A NM_001042425.1(TFAP2A): c.874G> A (p.Glu292Lys) single nucleotide variant Pathogenic rs267607108 GRCh37 Chromosome 6, 10400820: 10400820

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 BMP4 IRF6 MSX1
2 11.42 BMP4 MAFB PAX3 TFAP2A
3 10.93 BMP4 MSX1 PAX3 TFAP2A
4 10.06 IRF6 TFAP2A

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 EYA1 GRHL3 GTF2I GTF2IRD1 KCTD1 MSX1
2 nucleus GO:0005634 9.55 ANKRA2 DACH1 DSP EYA1 GRHL3 GTF2I
3 desmosome GO:0030057 9.16 DSP PKP2

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

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 GRHL3 IRF6 MAFB MSX1 PAX3 SALL1
2 sequence-specific DNA binding GO:0043565 9.73 GRHL3 IRF6 MAFB MSX1 PAX3 TFAP2A
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 DACH1 MSX1 TBX22 TFAP2A
4 DNA binding GO:0003677 9.7 DACH1 GRHL3 GTF2I GTF2IRD1 IRF6 MAFB
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.61 DACH1 MSX1 TBX22
6 DNA-binding transcription factor activity GO:0003700 9.32 DACH1 GRHL3 GTF2I GTF2IRD1 IRF6 MAFB
7 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.16 DSP PKP2
8 protein binding GO:0005515 10.3 ANKRA2 BMP4 DACH1 DSP EYA1 GRHL3

Sources for Branchiooculofacial Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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