BOFS
MCID: BRN003
MIFTS: 41

Branchiooculofacial Syndrome (BOFS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Branchiooculofacial Syndrome

About this section

Aliases & Descriptions for Branchiooculofacial Syndrome:

Name: Branchiooculofacial Syndrome 52 11 23 48 24 70 27 12 13
Branchio-Oculo-Facial Syndrome 24 25 54 70 50 68
Bof Syndrome 23 24 70 50
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 48 25 70
Bofs 25 54 70
 
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 48 70
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 48 70
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 25
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 25
Bofs Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
branchio-oculo-facial syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
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:

OMIM52 113620
Disease Ontology11 DOID:0050691
Orphanet54 ORPHA1297
UMLS via Orphanet69 C0376524
ICD10 via Orphanet31 Q18.8
MedGen37 C0376524
MeSH39 D019280

Summaries for Branchiooculofacial Syndrome

About this section
OMIM:52 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 Array, Array and Array. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways is Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Affiliated tissues include skin, eye and thymus, and related mouse phenotype vision/eye.

Disease Ontology:11 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:48 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:70 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 for NBK55063

Related Diseases for Branchiooculofacial Syndrome

About this section

Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Symptoms & Phenotypes for Branchiooculofacial Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

113620

Clinical features from OMIM:

113620

Human phenotypes related to Branchiooculofacial Syndrome:

 54 64 (show all 90)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Occasional (29-5%) HP:0000003
2 renal agenesis64 54 Occasional (29-5%) HP:0000104
3 hydronephrosis64 54 Occasional (29-5%) HP:0000126
4 oral cleft54 Occasional (29-5%)
5 high palate64 54 Frequent (79-30%) HP:0000218
6 everted lower lip vermilion64 54 Very frequent (99-80%) HP:0000232
7 dolichocephaly64 54 Frequent (79-30%) HP:0000268
8 low-set, posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000368
9 abnormality of the pinna64 54 Very frequent (99-80%) HP:0000377
10 conductive hearing impairment64 54 Very frequent (99-80%) HP:0000405
11 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
12 broad nasal tip64 54 Frequent (79-30%) HP:0000455
13 microcornea64 54 Occasional (29-5%) HP:0000482
14 strabismus64 54 Occasional (29-5%) HP:0000486
15 ptosis64 54 Occasional (29-5%) HP:0000508
16 cataract64 54 Occasional (29-5%) HP:0000518
17 nasolacrimal duct obstruction64 54 Frequent (79-30%) HP:0000579
18 upslanted palpebral fissure64 54 Frequent (79-30%) HP:0000582
19 coloboma54 Very frequent (99-80%)
20 iris coloboma64 54 Frequent (79-30%) HP:0000612
21 microdontia64 54 Frequent (79-30%) HP:0000691
22 atypical scarring of skin64 54 Very frequent (99-80%) HP:0000987
23 hemangioma64 54 Very frequent (99-80%) HP:0001028
24 preaxial hand polydactyly64 54 Occasional (29-5%) HP:0001177
25 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
26 nasal speech64 54 Frequent (79-30%) HP:0001611
27 deep philtrum64 54 Very frequent (99-80%) HP:0002002
28 neurological speech impairment64 54 Frequent (79-30%) HP:0002167
29 premature graying of hair64 54 Frequent (79-30%) HP:0002216
30 short stature64 54 Frequent (79-30%) HP:0004322
31 postauricular pit64 54 Very frequent (99-80%) HP:0004464
32 preauricular pit64 54 Very frequent (99-80%) HP:0004467
33 supraauricular pit64 54 Very frequent (99-80%) HP:0008606
34 reduced number of teeth64 54 Frequent (79-30%) HP:0009804
35 upper lip pit64 54 Occasional (29-5%) HP:0100268
36 non-midline cleft lip64 54 Frequent (79-30%) HP:0100335
37 fingernail dysplasia64 54 Frequent (79-30%) HP:0100798
38 cryptorchidism64 HP:0000028
39 hypospadias64 HP:0000047
40 renal cyst64 HP:0000107
41 abnormality of the teeth64 HP:0000164
42 cleft palate64 HP:0000175
43 lower lip pit64 HP:0000196
44 cleft upper lip64 HP:0000204
45 microcephaly64 HP:0000252
46 malar flattening64 HP:0000272
47 hypertelorism64 HP:0000316
48 micrognathia64 HP:0000347
49 small forehead64 HP:0000350
50 posteriorly rotated ears64 HP:0000358
51 low-set ears64 HP:0000369
52 overfolded helix64 HP:0000396
53 sensorineural hearing impairment64 HP:0000407
54 short nasal septum64 HP:0000420
55 short neck64 HP:0000470
56 retinal coloboma64 HP:0000480
57 telecanthus64 HP:0000506
58 anophthalmia64 HP:0000528
59 myopia64 HP:0000545
60 microphthalmia64 HP:0000568
61 nystagmus64 HP:0000639
62 single transverse palmar crease64 HP:0000954
63 aplasia cutis congenita64 HP:0001057
64 seizures64 HP:0001250
65 intellectual disability, mild64 HP:0001256
66 hypoplastic fingernail64 HP:0001804
67 gastroesophageal reflux64 HP:0002020
68 pyloric stenosis64 HP:0002021
69 low posterior hairline64 HP:0002162
70 white forelock64 HP:0002211
71 agenesis of cerebellar vermis64 HP:0002335
72 supernumerary nipple64 HP:0002558
73 kyphosis64 HP:0002808
74 elbow flexion contracture64 HP:0002987
75 hyperlordosis64 HP:0003307
76 clinodactyly of the 5th finger64 HP:0004209
77 dermal atrophy64 HP:0004334
78 malrotation of colon64 HP:0004785
79 duplication of internal organs64 HP:0005217
80 depressed nasal bridge64 HP:0005280
81 fusion of middle ear ossicles64 HP:0005473
82 wide intermamillary distance64 HP:0006610
83 microtia64 HP:0008551
84 hypoplastic superior helix64 HP:0008559
85 postnatal growth retardation64 HP:0008897
86 proximal placement of thumb64 HP:0009623
87 short thumb64 HP:0009778
88 branchial anomaly64 HP:0009794
89 ectopic thymus tissue64 HP:0010517
90 hamartoma64 HP:0010566

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1EYA1, GRHL3, SIX5, TFAP2A

Drugs & Therapeutics for Branchiooculofacial Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiooculofacial Syndrome

Genetic Tests for Branchiooculofacial Syndrome

About this section

Genetic tests related to Branchiooculofacial Syndrome:

id Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome27 24 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

About this section

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

36
Skin, Eye, Thymus, Colon, Kidney

Publications for Branchiooculofacial Syndrome

About this section

Articles related to Branchiooculofacial Syndrome:

idTitleAuthorsYear
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

About this section

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

70
id Symbol AA change Variation ID SNP ID
1TFAP2Ap.Leu249ProVAR_045838
2TFAP2Ap.Arg254GlyVAR_045839rs151344528
3TFAP2Ap.Arg255GlyVAR_045840rs121909574
4TFAP2Ap.Gly262GluVAR_045841rs121909575

Clinvar genetic disease variations for Branchiooculofacial Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TFAP2ANM_ 001042425.1(TFAP2A): c.751A> G (p.Arg251Gly)SNVPathogenicrs121909574GRCh37Chr 6, 10404742: 10404742
2TFAP2ANM_ 001042425.1(TFAP2A): c.773G> A (p.Gly258Glu)SNVPathogenicrs121909575GRCh37Chr 6, 10402823: 10402823
3TFAP2ATFAP2A, 12-BP DEL, NT697deletionPathogenic
4TFAP2ATFAP2A, PHE319SERSNVPathogenic
5TFAP2ATFAP2A, 18-BP DEL/6-BP INS, NT828indelPathogenic
6TFAP2ANM_ 001042425.1(TFAP2A): c.874G> A (p.Glu292Lys)SNVPathogenicrs267607108GRCh37Chr 6, 10400820: 10400820
7TFAP2ANM_ 001042425.1(TFAP2A): c.698G> A (p.Arg233Gln)SNVPathogenicrs151344525GRCh37Chr 6, 10404795: 10404795
8TFAP2ANM_ 001042425.1(TFAP2A): c.637C> A (p.Arg213Ser)SNVPathogenicrs793888540GRCh37Chr 6, 10404856: 10404856
9TFAP2ANM_ 001042425.1(TFAP2A): c.629T> A (p.Val210Asp)SNVPathogenicrs793888541GRCh37Chr 6, 10404864: 10404864

Expression for genes affiliated with Branchiooculofacial Syndrome

About this section
Search GEO for disease gene expression data for Branchiooculofacial Syndrome.

Pathways for genes affiliated with Branchiooculofacial Syndrome

About this section

GO Terms for genes affiliated with Branchiooculofacial Syndrome

About this section

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:004247210.3EYA1, TFAP2A
2sensory perception of soundGO:000760510.3EYA1, TFAP2A
3eyelid development in camera-type eyeGO:006102910.2GRHL3, TFAP2A
4cochlea morphogenesisGO:009010310.1EYA1, GRHL3
5pattern specification processGO:000738910.1EYA1, GRHL3
6positive regulation of transcription, DNA-templatedGO:00458939.7EYA1, GRHL3, TFAP2A
7negative regulation of transcription, DNA-templatedGO:00458929.5KCTD1, SIX5, TFAP2A
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.9EYA1, GRHL3, SIX5, TFAP2A
9regulation of transcription, DNA-templatedGO:00063558.3EYA1, GRHL3, KCTD1, SIX5, TFAP2A
10transcription, DNA-templatedGO:00063517.5EYA1, GRHL3, KCTD1, SIX5, TFAP2A

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435658.6GRHL3, SIX5, TFAP2A

Sources for Branchiooculofacial Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet