BOFS
MCID: BRN003
MIFTS: 49

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 57 12 24 53 75 37 29 13 6 15 40
Branchio-Oculo-Facial Syndrome 76 25 59 75 55 73
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 57 53 25 75
Bof Syndrome 57 24 75 55
Bofs 57 25 59 75
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 57 53 75
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 75
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:



Summaries for Branchiooculofacial Syndrome

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)

MalaCards based summary : Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to ear malformation and cleft lip. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha). Affiliated tissues include skin, eye and thymus, and related phenotypes are high palate and ptosis

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

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.

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.

UniProtKB/Swiss-Prot : 75 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 : 76 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

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



Diseases related to Branchiooculofacial Syndrome

Symptoms & Phenotypes for Branchiooculofacial Syndrome

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
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

Human phenotypes related to Branchiooculofacial Syndrome:

59 32 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
9 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
10 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
11 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
12 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
13 abnormality of the pinna 59 32 hallmark (90%) Very frequent (99-80%) HP:0000377
14 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
15 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
16 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
17 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
18 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
19 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
20 broad nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000455
21 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
22 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002
23 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
24 nasolacrimal duct obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0000579
25 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
26 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
27 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
28 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
29 preauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004467
30 fingernail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100798
31 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
32 hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001028
33 postauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004464
34 supraauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0008606
35 upper lip pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0100268
36 malar flattening 32 HP:0000272
37 hypertelorism 32 HP:0000316
38 low-set ears 32 HP:0000369
39 short neck 32 HP:0000470
40 nystagmus 32 HP:0000639
41 seizures 32 HP:0001250
42 kyphosis 32 HP:0002808
43 hyperlordosis 32 HP:0003307
44 depressed nasal bridge 32 HP:0005280
45 abnormality of the dentition 32 HP:0000164
46 microtia 32 HP:0008551
47 microcephaly 32 HP:0000252
48 sensorineural hearing impairment 32 HP:0000407
49 gastroesophageal reflux 32 HP:0002020
50 intellectual disability, mild 32 HP:0001256

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.62 EYA1 GRHL3 GTF2IRD1 TFAP2A
2 craniofacial MP:0005382 9.56 EYA1 GRHL3 GTF2IRD1 TFAP2A
3 embryo MP:0005380 9.46 EYA1 GRHL3 GTF2IRD1 TFAP2A
4 skeleton MP:0005390 9.26 EYA1 GRHL3 GTF2IRD1 TFAP2A
5 vision/eye MP:0005391 8.92 EYA1 GRHL3 SIX5 TFAP2A

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, Eye, Thymus, Kidney, Colon, Retina, Heart

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

(show all 36)
# Title Authors Year
1
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome. ( 29760939 )
2018
2
Branchiootorenal and branchiooculofacial syndrome. ( 25569411 )
2015
3
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. ( 25325185 )
2015
4
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. ( 24783654 )
2014
5
6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome. ( 23495225 )
2013
6
Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family. ( 23106675 )
2012
7
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. ( 21539471 )
2012
8
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature. ( 20461149 )
2010
9
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
10
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. ( 19764023 )
2009
11
Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome. ( 19795528 )
2009
12
A Case of Branchio-oculo-facial Syndrome. ( 20523806 )
2009
13
Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS). ( 17676609 )
2007
14
Bilateral dermal thymus of neck in branchio-oculo-facial syndrome. ( 17113525 )
2006
15
Branchio-oculo-facial syndrome with the atresia of external ear. ( 15936829 )
2005
16
Branchio-oculo-facial syndrome with bilateral linear scars of the neck. ( 16101871 )
2005
17
Branchio-oculo-facial syndrome. ( 16131778 )
2005
18
Branchio-oculo-facial syndrome with ectodermal parathyroid tissue. ( 16360526 )
2005
19
Thymic tissue in the skin: a clue to the diagnosis of the branchio-oculo-facial syndrome: report of two cases. ( 12598914 )
2003
20
Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities. ( 11826031 )
2002
21
Branchio-oculo-facial syndrome. ( 10906521 )
2000
22
The gene for branchio-oculo-facial syndrome does not colocalize to the EYA1-4 genes. ( 10991692 )
2000
23
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome. ( 11043436 )
2000
24
Ocular anomalies in the branchio-oculo-facial syndrome. ( 9524030 )
1998
25
Prenatal findings of branchio-oculo-facial syndrome. ( 9669308 )
1998
26
Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. ( 9761567 )
1998
27
Further delineation of the branchio-oculo-facial syndrome. ( 7747785 )
1995
28
Branchio-oculo-facial syndrome and dermal thymus: case report and review of the literature. ( 7792215 )
1995
29
Branchio-oculo-facial syndrome: broadening the spectrum. ( 8160736 )
1994
30
Branchiooculofacial Syndrome ( 21634087 )
1993
31
Long-term evaluation of a child with the branchio-oculo-facial syndrome. ( 1456287 )
1992
32
Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. ( 1499589 )
1992
33
A lethal syndrome resembling branchio-oculo-facial syndrome. ( 1544215 )
1992
34
Recurrence of orbital cysts in the branchio-oculo-facial syndrome. ( 1619642 )
1992
35
The branchio-oculo-facial syndrome. ( 2004100 )
1991
36
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. ( 2354548 )
1990

Variations for Branchiooculofacial Syndrome

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

75
# 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_003220.2(TFAP2A): c.761G> A (p.Arg254Gln) single nucleotide variant Likely pathogenic rs151344530 GRCh38 Chromosome 6, 10404511: 10404511
13 TFAP2A NM_003220.2(TFAP2A): c.761G> A (p.Arg254Gln) single nucleotide variant Likely pathogenic rs151344530 GRCh37 Chromosome 6, 10404744: 10404744
14 TFAP2A NM_001032280.2(TFAP2A): c.688C> T (p.Arg230Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10404566: 10404566
15 TFAP2A NM_001032280.2(TFAP2A): c.688C> T (p.Arg230Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10404799: 10404799
16 TFAP2A NM_003220.2(TFAP2A): c.401_407dup (p.Pro137Alafs) duplication Likely pathogenic GRCh38 Chromosome 6, 10409974: 10409980
17 TFAP2A NM_003220.2(TFAP2A): c.401_407dup (p.Pro137Alafs) duplication Likely pathogenic GRCh37 Chromosome 6, 10410207: 10410213
18 TFAP2A NM_003220.2(TFAP2A): c.697G> A (p.Glu233Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10404808: 10404808
19 TFAP2A NM_003220.2(TFAP2A): c.697G> A (p.Glu233Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10404575: 10404575
20 TFAP2A NM_003220.2(TFAP2A): c.710G> C (p.Arg237Pro) single nucleotide variant Pathogenic rs151344525 GRCh38 Chromosome 6, 10404562: 10404562
21 TFAP2A NM_003220.2(TFAP2A): c.710G> C (p.Arg237Pro) single nucleotide variant Pathogenic rs151344525 GRCh37 Chromosome 6, 10404795: 10404795
22 TFAP2A NM_003220.2(TFAP2A): c.713T> C (p.Leu238Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10404792: 10404792
23 TFAP2A NM_003220.2(TFAP2A): c.713T> C (p.Leu238Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10404559: 10404559
24 TFAP2A NM_003220.2(TFAP2A): c.749G> A (p.Gly250Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10404756: 10404756
25 TFAP2A NM_003220.2(TFAP2A): c.749G> A (p.Gly250Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10404523: 10404523
26 TFAP2A NM_003220.2(TFAP2A): c.760C> G (p.Arg254Gly) single nucleotide variant Pathogenic rs151344528 GRCh38 Chromosome 6, 10404512: 10404512
27 TFAP2A NM_003220.2(TFAP2A): c.760C> G (p.Arg254Gly) single nucleotide variant Pathogenic rs151344528 GRCh37 Chromosome 6, 10404745: 10404745
28 TFAP2A NM_003220.2(TFAP2A): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs151344528 GRCh37 Chromosome 6, 10404745: 10404745
29 TFAP2A NM_003220.2(TFAP2A): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs151344528 GRCh38 Chromosome 6, 10404512: 10404512
30 TFAP2A NM_003220.2(TFAP2A): c.767C> T (p.Ala256Val) single nucleotide variant Pathogenic rs151344531 GRCh38 Chromosome 6, 10402608: 10402608
31 TFAP2A NM_003220.2(TFAP2A): c.767C> T (p.Ala256Val) single nucleotide variant Pathogenic rs151344531 GRCh37 Chromosome 6, 10402841: 10402841
32 TFAP2A NM_003220.2(TFAP2A): c.889G> C (p.Ala297Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10400817: 10400817
33 TFAP2A NM_003220.2(TFAP2A): c.889G> C (p.Ala297Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10400584: 10400584
34 TFAP2A NM_003220.2(TFAP2A): c.1314A> G (p.Ter438Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 10398417: 10398417
35 TFAP2A NM_003220.2(TFAP2A): c.1314A> G (p.Ter438Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 10398650: 10398650
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

GO Terms for Branchiooculofacial Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 EYA1 GRHL3 SIX5 TFAP2A
2 positive regulation of transcription, DNA-templated GO:0045893 9.61 EYA1 GRHL3 TFAP2A
3 sensory perception of sound GO:0007605 9.46 EYA1 TFAP2A
4 pattern specification process GO:0007389 9.4 EYA1 GRHL3
5 inner ear morphogenesis GO:0042472 9.37 EYA1 TFAP2A
6 anatomical structure development GO:0048856 9.26 EYA1 SIX5
7 cochlea morphogenesis GO:0090103 9.16 EYA1 GRHL3
8 eyelid development in camera-type eye GO:0061029 8.96 GRHL3 TFAP2A
9 transcription by RNA polymerase II GO:0006366 8.92 GRHL3 GTF2IRD1 SIX5 TFAP2A

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.46 GRHL3 GTF2IRD1 SIX5 TFAP2A
2 DNA-binding transcription factor activity GO:0003700 9.43 GRHL3 GTF2IRD1 TFAP2A
3 sequence-specific DNA binding GO:0043565 9.13 GRHL3 SIX5 TFAP2A
4 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 SIX5 TFAP2A

Sources for Branchiooculofacial Syndrome

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