MCID: BRN003
MIFTS: 46

Branchiooculofacial Syndrome

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Branchiooculofacial Syndrome

MalaCards integrated aliases for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 53 12 23 49 71 36 28 13 14
Branchio-Oculo-Facial Syndrome 72 24 55 71 51 69
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 53 49 24 71
Bof Syndrome 53 23 71 51
Bofs 53 24 55 71
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 53 49 71
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 53 24
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 49 71
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 24
Bofs Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
branchio-oculo-facial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
normal intelligence in majority


HPO:

31
branchiooculofacial syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 : 53 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 catatrichy, and has symptoms including high palate, ptosis and neurological speech impairment. 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 cardiovascular system and craniofacial

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

Genetics Home Reference : 24 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 : 49 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. Last updated: 6/23/2011

UniProtKB/Swiss-Prot : 71 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 : 72 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:

53
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:

55 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
3 neurological speech impairment 55 31 frequent (33%) Frequent (79-30%) HP:0002167
4 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
5 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
6 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
7 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
8 dolichocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000268
9 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
10 microdontia 55 31 frequent (33%) Frequent (79-30%) HP:0000691
11 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
12 atypical scarring of skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000987
13 abnormality of the pinna 55 31 hallmark (90%) Very frequent (99-80%) HP:0000377
14 premature graying of hair 55 31 frequent (33%) Frequent (79-30%) HP:0002216
15 non-midline cleft lip 55 31 frequent (33%) Frequent (79-30%) HP:0100335
16 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
17 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
18 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
19 upslanted palpebral fissure 55 31 frequent (33%) Frequent (79-30%) HP:0000582
20 broad nasal tip 55 31 frequent (33%) Frequent (79-30%) HP:0000455
21 nasal speech 55 31 frequent (33%) Frequent (79-30%) HP:0001611
22 deep philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002002
23 reduced number of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0009804
24 nasolacrimal duct obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0000579
25 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
26 preaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001177
27 microcornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000482
28 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
29 preauricular pit 55 31 hallmark (90%) Very frequent (99-80%) HP:0004467
30 fingernail dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0100798
31 renal agenesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000104
32 hemangioma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001028
33 postauricular pit 55 31 hallmark (90%) Very frequent (99-80%) HP:0004464
34 supraauricular pit 55 31 hallmark (90%) Very frequent (99-80%) HP:0008606
35 upper lip pit 55 31 occasional (7.5%) Occasional (29-5%) HP:0100268
36 seizures 31 HP:0001250
37 malar flattening 31 HP:0000272
38 hypertelorism 31 HP:0000316
39 low-set ears 31 HP:0000369
40 short neck 31 HP:0000470
41 nystagmus 31 HP:0000639
42 kyphosis 31 HP:0002808
43 hyperlordosis 31 HP:0003307
44 depressed nasal bridge 31 HP:0005280
45 abnormality of the dentition 31 HP:0000164
46 microtia 31 HP:0008551
47 microcephaly 31 HP:0000252
48 sensorineural hearing impairment 31 HP:0000407
49 gastroesophageal reflux 31 HP:0002020
50 intellectual disability, mild 31 HP:0001256

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

43
# 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 28 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

38
Skin, Eye, Thymus, Kidney, Colon, Retina

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

# Title Authors Year
1
Branchiootorenal and branchiooculofacial syndrome. ( 25569411 )
2015
2
Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family. ( 23106675 )
2012
3
Branchiooculofacial Syndrome ( 21634087 )
1993

Variations for Branchiooculofacial Syndrome

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

71
# 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
# 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.773G> A (p.Gly258Glu) single nucleotide variant Pathogenic rs121909575 GRCh37 Chromosome 6, 10402823: 10402823
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_001042425.1(TFAP2A): c.874G> A (p.Glu292Lys) single nucleotide variant Pathogenic rs267607108 GRCh37 Chromosome 6, 10400820: 10400820
7 TFAP2A NM_001042425.1(TFAP2A): c.698G> A (p.Arg233Gln) single nucleotide variant Pathogenic rs151344525 GRCh37 Chromosome 6, 10404795: 10404795
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.629T> A (p.Val210Asp) single nucleotide variant Pathogenic rs793888541 GRCh37 Chromosome 6, 10404864: 10404864

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 regulation of transcription, DNA-templated GO:0006355 9.65 EYA1 GRHL3 GTF2IRD1 SIX5 TFAP2A
2 transcription by RNA polymerase II GO:0006366 9.63 GRHL3 GTF2IRD1 TFAP2A
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 EYA1 GRHL3 SIX5 TFAP2A
4 positive regulation of transcription, DNA-templated GO:0045893 9.61 EYA1 GRHL3 TFAP2A
5 transcription, DNA-templated GO:0006351 9.55 EYA1 GRHL3 GTF2IRD1 SIX5 TFAP2A
6 sensory perception of sound GO:0007605 9.48 EYA1 TFAP2A
7 inner ear morphogenesis GO:0042472 9.4 EYA1 TFAP2A
8 pattern specification process GO:0007389 9.37 EYA1 GRHL3
9 cochlea morphogenesis GO:0090103 8.96 EYA1 GRHL3
10 eyelid development in camera-type eye GO:0061029 8.62 GRHL3 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 9.26 GRHL3 GTF2IRD1 SIX5 TFAP2A
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.16 GTF2IRD1 TFAP2A
3 sequence-specific DNA binding GO:0043565 8.8 GRHL3 SIX5 TFAP2A

Sources for Branchiooculofacial Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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