MCID: BRN003
MIFTS: 40

Branchiooculofacial Syndrome malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Branchiooculofacial Syndrome

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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

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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 everted lower lip vermilion, low-set, posteriorly rotated ears and conductive hearing impairment. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha). 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.

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.

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

GeneReviews for NBK55063

Related Diseases for Branchiooculofacial Syndrome

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Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Symptoms & Phenotypes for Branchiooculofacial Syndrome

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Symptoms by clinical synopsis from OMIM:

113620

Clinical features from OMIM:

113620

Human phenotypes related to Branchiooculofacial Syndrome:

 64 54 (show all 100)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0000232
2 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
3 conductive hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000405
4 chorioretinal coloboma64 hallmark (90%) HP:0000567
5 deep philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0002002
6 aplasia/hypoplasia of the skin64 hallmark (90%) HP:0008065
7 external ear malformation64 hallmark (90%) HP:0008572
8 sacrococcygeal pilonidal abnormality64 hallmark (90%) HP:0010767
9 abnormality of the palate64 typical (50%) HP:0000174
10 dolichocephaly64 54 typical (50%) Frequent (79-30%) HP:0000268
11 abnormality of the nose64 typical (50%) HP:0000366
12 upslanted palpebral fissure64 54 typical (50%) Frequent (79-30%) HP:0000582
13 iris coloboma64 54 typical (50%) Frequent (79-30%) HP:0000612
14 lacrimation abnormality64 typical (50%) HP:0000632
15 microdontia64 54 typical (50%) Frequent (79-30%) HP:0000691
16 abnormality of the fingernails64 typical (50%) HP:0001231
17 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
18 abnormality of the voice64 typical (50%) HP:0001608
19 neurological speech impairment64 54 typical (50%) Frequent (79-30%) HP:0002167
20 premature graying of hair64 54 typical (50%) Frequent (79-30%) HP:0002216
21 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
22 postnatal growth retardation64 typical (50%) HP:0008897
23 reduced number of teeth64 54 typical (50%) Frequent (79-30%) HP:0009804
24 non-midline cleft lip64 54 typical (50%) Frequent (79-30%) HP:0100335
25 multicystic kidney dysplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000003
26 microcornea64 54 occasional (7.5%) Occasional (29-5%) HP:0000482
27 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
28 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
29 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
30 preaxial hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001177
31 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
32 lip pit64 occasional (7.5%) HP:0100267
33 cryptorchidism64 HP:0000028
34 hypospadias64 HP:0000047
35 renal agenesis64 54 Occasional (29-5%) HP:0000104
36 renal cyst64 HP:0000107
37 abnormality of the teeth64 HP:0000164
38 cleft palate64 HP:0000175
39 lower lip pit64 HP:0000196
40 cleft upper lip64 HP:0000204
41 microcephaly64 HP:0000252
42 malar flattening64 HP:0000272
43 hypertelorism64 HP:0000316
44 micrognathia64 HP:0000347
45 small forehead64 HP:0000350
46 low-set ears64 HP:0000369
47 overfolded helix64 HP:0000396
48 sensorineural hearing impairment64 HP:0000407
49 short nasal septum64 HP:0000420
50 broad nasal tip64 54 Frequent (79-30%) HP:0000455
51 short neck64 HP:0000470
52 retinal coloboma64 HP:0000480
53 telecanthus64 HP:0000506
54 anophthalmia64 HP:0000528
55 myopia64 HP:0000545
56 microphthalmia64 HP:0000568
57 nasolacrimal duct obstruction64 54 Frequent (79-30%) HP:0000579
58 nystagmus64 HP:0000639
59 single transverse palmar crease64 HP:0000954
60 atypical scarring of skin64 54 Very frequent (99-80%) HP:0000987
61 aplasia cutis congenita64 HP:0001057
62 seizures64 HP:0001250
63 intellectual disability, mild64 HP:0001256
64 nasal speech64 54 Frequent (79-30%) HP:0001611
65 hypoplastic fingernail64 HP:0001804
66 gastroesophageal reflux64 HP:0002020
67 pyloric stenosis64 HP:0002021
68 low posterior hairline64 HP:0002162
69 white forelock64 HP:0002211
70 agenesis of cerebellar vermis64 HP:0002335
71 supernumerary nipple64 HP:0002558
72 kyphosis64 HP:0002808
73 elbow flexion contracture64 HP:0002987
74 hyperlordosis64 HP:0003307
75 clinodactyly of the 5th finger64 HP:0004209
76 dermal atrophy64 HP:0004334
77 postauricular pit64 54 Very frequent (99-80%) HP:0004464
78 preauricular pit64 54 Very frequent (99-80%) HP:0004467
79 malrotation of colon64 HP:0004785
80 duplication of internal organs64 HP:0005217
81 depressed nasal bridge64 HP:0005280
82 fusion of middle ear ossicles64 HP:0005473
83 wide intermamillary distance64 HP:0006610
84 microtia64 HP:0008551
85 hypoplastic superior helix64 HP:0008559
86 supraauricular pit64 54 Very frequent (99-80%) HP:0008606
87 proximal placement of thumb64 HP:0009623
88 short thumb64 HP:0009778
89 branchial anomaly64 HP:0009794
90 ectopic thymus tissue64 HP:0010517
91 hamartoma64 HP:0010566
92 hydronephrosis54 Occasional (29-5%)
93 oral cleft54 Occasional (29-5%)
94 high palate54 Frequent (79-30%)
95 abnormality of the pinna54 Very frequent (99-80%)
96 wide nasal bridge54 Frequent (79-30%)
97 coloboma54 Very frequent (99-80%)
98 hemangioma54 Very frequent (99-80%)
99 upper lip pit54 Occasional (29-5%)
100 fingernail dysplasia54 Frequent (79-30%)

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiooculofacial Syndrome

Genetic Tests for Branchiooculofacial Syndrome

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Genetic tests related to Branchiooculofacial Syndrome:

id Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome27 24 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

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MalaCards organs/tissues related to Branchiooculofacial Syndrome:

36
Skin, Eye, Thymus, Colon, Kidney

Publications for Branchiooculofacial Syndrome

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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

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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, NT697deletionPathogenicChr na, -1: -1
4TFAP2ATFAP2A, PHE319SERSNVPathogenicChr na, -1: -1
5TFAP2ATFAP2A, 18-BP DEL/6-BP INS, NT828indelPathogenicChr na, -1: -1
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

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Search GEO for disease gene expression data for Branchiooculofacial Syndrome.

Pathways for genes affiliated with Branchiooculofacial Syndrome

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GO Terms for genes affiliated with Branchiooculofacial Syndrome

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Cellular components related to Branchiooculofacial Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.5EYA1, GRHL3, KCTD1, SIX5, TFAP2A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1inner ear morphogenesisGO:004247210.2EYA1, TFAP2A
2eyelid development in camera-type eyeGO:006102910.1GRHL3, TFAP2A
3cochlea morphogenesisGO:009010310.1EYA1, GRHL3
4pattern specification processGO:000738910.1EYA1, GRHL3
5sensory perception of soundGO:00076059.5EYA1, TFAP2A
6positive regulation of transcription, DNA-templatedGO:00458939.4EYA1, GRHL3, TFAP2A
7negative regulation of transcription, DNA-templatedGO:00458929.4KCTD1, SIX5, TFAP2A
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.7EYA1, GRHL3, 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

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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