BOFS
MCID: BRN003
MIFTS: 41

Branchiooculofacial Syndrome (BOFS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Branchiooculofacial Syndrome

Aliases & Descriptions for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 54 12 23 50 24 66 29 13 14
Branchio-Oculo-Facial Syndrome 24 25 56 66 52 69
Bof Syndrome 23 24 66 52
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 50 25 66
Bofs 25 56 66
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 50 66
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 50 66
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 25
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 25
Bofs Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
branchio-oculo-facial syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

GeneReviews:

23
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:



External Ids:

OMIM 54 113620
Disease Ontology 12 DOID:0050691
Orphanet 56 ORPHA1297
UMLS via Orphanet 70 C0376524
ICD10 via Orphanet 34 Q18.8
MedGen 40 C0376524
MeSH 42 D019280

Summaries for Branchiooculofacial Syndrome

OMIM : 54 Branchiooculofacial syndrome (BOFS) is characterized by branchial cleft sinus defects, ocular anomalies such as... (113620) more...

MalaCards based summary : Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to pulmonic stenosis and microphthalmia, 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), and among its related pathways/superpathways is Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Affiliated tissues include skin, eye and thymus, and related phenotype is vision/eye.

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 : 50 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 : 66 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.

GeneReviews: NBK55063

Related Diseases for Branchiooculofacial Syndrome

Diseases related to Branchiooculofacial Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 10.1
2 microphthalmia 10.1
3 polydactyly 10.1
4 cardiomyopathy 10.1
5 colobomatous microphthalmia 10.1
6 orofacial cleft 6 9.9 GRHL3 TFAP2A
7 clcn7-related osteopetrosis 9.9 EYA1 SIX5
8 otofaciocervical syndrome 9.9 EYA1 SIX5
9 retinitis pigmentosa 63 9.9 EYA1 SIX5
10 warburg micro syndrome 9.8 EYA1 SIX5
11 pancreatic agenesis 2 9.8 EYA1 SIX5
12 ectopic thymus 9.8
13 focal dermal hypoplasia 9.8
14 ectodermal dysplasia 9.8
15 amenorrhea 9.7 EYA1 SIX5 TFAP2A
16 hereditary angioedema 9.7 EYA1 SIX5
17 question mark ears, isolated 9.3 EYA1 GRHL3 KCTD1 SIX5 TFAP2A

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



Diseases related to Branchiooculofacial Syndrome

Symptoms & Phenotypes for Branchiooculofacial Syndrome

Symptoms by clinical synopsis from OMIM:

113620

Clinical features from OMIM:

113620

Human phenotypes related to Branchiooculofacial Syndrome:

56 32 (show top 50) (show all 90)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 56 32 Frequent (79-30%) HP:0000218
2 ptosis 56 32 Occasional (29-5%) HP:0000508
3 neurological speech impairment 56 32 Frequent (79-30%) HP:0002167
4 cataract 56 32 Occasional (29-5%) HP:0000518
5 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
6 short stature 56 32 Frequent (79-30%) HP:0004322
7 strabismus 56 32 Occasional (29-5%) HP:0000486
8 dolichocephaly 56 32 Frequent (79-30%) HP:0000268
9 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
10 microdontia 56 32 Frequent (79-30%) HP:0000691
11 atypical scarring of skin 56 32 Very frequent (99-80%) HP:0000987
12 abnormality of the pinna 56 32 Very frequent (99-80%) HP:0000377
13 premature graying of hair 56 32 Frequent (79-30%) HP:0002216
14 non-midline cleft lip 56 32 Frequent (79-30%) HP:0100335
15 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
16 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
17 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
18 conductive hearing impairment 56 32 Very frequent (99-80%) HP:0000405
19 upslanted palpebral fissure 56 32 Frequent (79-30%) HP:0000582
20 broad nasal tip 56 32 Frequent (79-30%) HP:0000455
21 nasal speech 56 32 Frequent (79-30%) HP:0001611
22 deep philtrum 56 32 Very frequent (99-80%) HP:0002002
23 reduced number of teeth 56 32 Frequent (79-30%) HP:0009804
24 nasolacrimal duct obstruction 56 32 Frequent (79-30%) HP:0000579
25 iris coloboma 56 32 Frequent (79-30%) HP:0000612
26 preaxial hand polydactyly 56 32 Occasional (29-5%) HP:0001177
27 microcornea 56 32 Occasional (29-5%) HP:0000482
28 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
29 preauricular pit 56 32 Very frequent (99-80%) HP:0004467
30 fingernail dysplasia 56 32 Frequent (79-30%) HP:0100798
31 renal agenesis 56 32 Occasional (29-5%) HP:0000104
32 hemangioma 56 32 Very frequent (99-80%) HP:0001028
33 postauricular pit 56 32 Very frequent (99-80%) HP:0004464
34 supraauricular pit 56 32 Very frequent (99-80%) HP:0008606
35 upper lip pit 56 32 Occasional (29-5%) HP:0100268
36 seizures 32 HP:0001250
37 malar flattening 32 HP:0000272
38 hypertelorism 32 HP:0000316
39 low-set ears 32 HP:0000369
40 short neck 32 HP:0000470
41 nystagmus 32 HP:0000639
42 kyphosis 32 HP:0002808
43 hyperlordosis 32 HP:0003307
44 depressed nasal bridge 32 HP:0005280
45 abnormality of the teeth 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 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:

id Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome 29 24 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

39
Skin, Eye, Thymus, Kidney, Colon

Publications for Branchiooculofacial Syndrome

Articles related to Branchiooculofacial Syndrome:

id 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:

66
id 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
id 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:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.65 EYA1 GRHL3 KCTD1 SIX5 TFAP2A
2 positive regulation of transcription, DNA-templated GO:0045893 9.63 EYA1 GRHL3 TFAP2A
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.62 EYA1 GRHL3 SIX5 TFAP2A
4 negative regulation of transcription, DNA-templated GO:0045892 9.61 KCTD1 SIX5 TFAP2A
5 transcription, DNA-templated GO:0006351 9.55 EYA1 GRHL3 KCTD1 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:

id Name GO ID Score Top Affiliating Genes
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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