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 51 11 23 47 24 69 26 12 13
Branchio-Oculo-Facial Syndrome 24 25 53 69 49 67
Bof Syndrome 23 24 69 49
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 47 25 69
Bofs 25 53 69
 
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 47 69
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 47 69
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 25
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 25
Bofs Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
branchio-oculo-facial syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
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:

OMIM51 113620
Disease Ontology11 DOID:0050691
Orphanet53 ORPHA1297
UMLS via Orphanet68 C0376524
ICD10 via Orphanet30 Q18.8
MedGen36 C0376524
MeSH38 D019280

Summaries for Branchiooculofacial Syndrome

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OMIM:51 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.

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:47 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:69 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

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Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Symptoms 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:

 63 53 (show all 100)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0000232
2 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
3 conductive hearing impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000405
4 chorioretinal coloboma63 hallmark (90%) HP:0000567
5 deep philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0002002
6 aplasia/hypoplasia of the skin63 hallmark (90%) HP:0008065
7 external ear malformation63 hallmark (90%) HP:0008572
8 sacrococcygeal pilonidal abnormality63 hallmark (90%) HP:0010767
9 abnormality of the palate63 typical (50%) HP:0000174
10 dolichocephaly63 53 typical (50%) Frequent (79-30%) HP:0000268
11 abnormality of the nose63 typical (50%) HP:0000366
12 upslanted palpebral fissure63 53 typical (50%) Frequent (79-30%) HP:0000582
13 iris coloboma63 53 typical (50%) Frequent (79-30%) HP:0000612
14 lacrimation abnormality63 typical (50%) HP:0000632
15 microdontia63 53 typical (50%) Frequent (79-30%) HP:0000691
16 abnormality of the fingernails63 typical (50%) HP:0001231
17 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
18 abnormality of the voice63 typical (50%) HP:0001608
19 neurological speech impairment63 53 typical (50%) Frequent (79-30%) HP:0002167
20 premature graying of hair63 53 typical (50%) Frequent (79-30%) HP:0002216
21 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
22 postnatal growth retardation63 typical (50%) HP:0008897
23 reduced number of teeth63 53 typical (50%) Frequent (79-30%) HP:0009804
24 non-midline cleft lip63 53 typical (50%) Frequent (79-30%) HP:0100335
25 multicystic kidney dysplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000003
26 microcornea63 53 occasional (7.5%) Occasional (29-5%) HP:0000482
27 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
28 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
29 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
30 preaxial hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001177
31 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
32 lip pit63 occasional (7.5%) HP:0100267
33 cryptorchidism63 HP:0000028
34 hypospadias63 HP:0000047
35 renal agenesis63 53 Occasional (29-5%) HP:0000104
36 renal cyst63 HP:0000107
37 abnormality of the teeth63 HP:0000164
38 cleft palate63 HP:0000175
39 lower lip pit63 HP:0000196
40 cleft upper lip63 HP:0000204
41 microcephaly63 HP:0000252
42 malar flattening63 HP:0000272
43 hypertelorism63 HP:0000316
44 micrognathia63 HP:0000347
45 small forehead63 HP:0000350
46 low-set ears63 HP:0000369
47 overfolded helix63 HP:0000396
48 sensorineural hearing impairment63 HP:0000407
49 short nasal septum63 HP:0000420
50 broad nasal tip63 53 Frequent (79-30%) HP:0000455
51 short neck63 HP:0000470
52 retinal coloboma63 HP:0000480
53 telecanthus63 HP:0000506
54 anophthalmia63 HP:0000528
55 myopia63 HP:0000545
56 microphthalmia63 HP:0000568
57 nasolacrimal duct obstruction63 53 Frequent (79-30%) HP:0000579
58 nystagmus63 HP:0000639
59 single transverse palmar crease63 HP:0000954
60 atypical scarring of skin63 53 Very frequent (99-80%) HP:0000987
61 aplasia cutis congenita63 HP:0001057
62 seizures63 HP:0001250
63 intellectual disability, mild63 HP:0001256
64 nasal speech63 53 Frequent (79-30%) HP:0001611
65 hypoplastic fingernail63 HP:0001804
66 gastroesophageal reflux63 HP:0002020
67 pyloric stenosis63 HP:0002021
68 low posterior hairline63 HP:0002162
69 white forelock63 HP:0002211
70 agenesis of cerebellar vermis63 HP:0002335
71 supernumerary nipple63 HP:0002558
72 kyphosis63 HP:0002808
73 elbow flexion contracture63 HP:0002987
74 hyperlordosis63 HP:0003307
75 clinodactyly of the 5th finger63 HP:0004209
76 dermal atrophy63 HP:0004334
77 postauricular pit63 53 Very frequent (99-80%) HP:0004464
78 preauricular pit63 53 Very frequent (99-80%) HP:0004467
79 malrotation of colon63 HP:0004785
80 duplication of internal organs63 HP:0005217
81 depressed nasal bridge63 HP:0005280
82 fusion of middle ear ossicles63 HP:0005473
83 wide intermamillary distance63 HP:0006610
84 microtia63 HP:0008551
85 hypoplastic superior helix63 HP:0008559
86 supraauricular pit63 53 Very frequent (99-80%) HP:0008606
87 proximal placement of thumb63 HP:0009623
88 short thumb63 HP:0009778
89 branchial anomaly63 HP:0009794
90 ectopic thymus tissue63 HP:0010517
91 hamartoma63 HP:0010566
92 hydronephrosis53 Occasional (29-5%)
93 oral cleft53 Occasional (29-5%)
94 high palate53 Frequent (79-30%)
95 abnormality of the pinna53 Very frequent (99-80%)
96 wide nasal bridge53 Frequent (79-30%)
97 coloboma53 Very frequent (99-80%)
98 hemangioma53 Very frequent (99-80%)
99 upper lip pit53 Occasional (29-5%)
100 fingernail dysplasia53 Frequent (79-30%)

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 Syndrome26 24 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

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MalaCards organs/tissues related to Branchiooculofacial Syndrome:

35
Skin, Eye, Thymus, Colon, Kidney

Animal Models for Branchiooculofacial Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1EYA1, GRHL3, SIX5, TFAP2A

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:

69
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
1eyelid development in camera-type eyeGO:006102910.1GRHL3, TFAP2A
2cochlea morphogenesisGO:00901039.8EYA1, GRHL3
3inner ear morphogenesisGO:00424729.8EYA1, TFAP2A
4pattern specification processGO:00073899.7EYA1, GRHL3
5sensory perception of soundGO:00076059.6EYA1, TFAP2A
6positive regulation of transcription, DNA-templatedGO:00458939.1EYA1, GRHL3, TFAP2A
7negative regulation of transcription, DNA-templatedGO:00458928.6KCTD1, SIX5, TFAP2A
8positive regulation of transcription from RNA polymerase II promoterGO:00459448.1EYA1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet