BOFS
MCID: BRN003
MIFTS: 46

Branchiooculofacial Syndrome (BOFS) malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for Branchiooculofacial Syndrome

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NIH Rare Diseases:42 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

MalaCards based summary: Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to polydactyly and microphthalmia, and has symptoms including retinoschisis/retinal/chorioretinal coloboma, protruding lips and philtrum deeply grooved. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)). Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and mortality/aging.

Disease Ontology:8 An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

Genetics Home Reference:21 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.

Description from OMIM:46 113620

GeneReviews summary for bofs

Aliases & Classifications for Branchiooculofacial Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 21Genetics Home Reference, 62UMLS, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Branchiooculofacial Syndrome, Aliases & Descriptions:

Name: Branchiooculofacial Syndrome 8 9 19 42 20 22 46 10
Branchio-Oculo-Facial Syndrome 21 44 48 62
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome 42 21 62
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome 42 62
Bof Syndrome 19 44
 
Bofs 21 48
Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging 21
Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging 42
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome 21
Bofs Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

48
branchio-oculo-facial syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050691
OMIM46 113620
ICD10 via Orphanet26 Q18.8
UMLS via Orphanet63 C0376524

Related Diseases for Branchiooculofacial Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1polydactyly10.4
2microphthalmia10.4
3oculootofacial dysplasia10.4
4pulmonic stenosis10.4
5ectopic thymus10.2
6ectodermal dysplasia10.1
7focal dermal hypoplasia10.1
8tongue squamous cell carcinoma9.8PKP2, TFAP2A

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

Symptoms:

48 (show all 37)
  • retinoschisis/retinal/chorioretinal coloboma
  • protruding lips
  • philtrum deeply grooved
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • conductive deafness/hearing loss
  • skin hypoplasia/aplasia/atrophy
  • dermoid sinus/dimple/pit (excluding sacral)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • autosomal dominant inheritance
  • dolichocephaly/scaphocephaly
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • coloboma of iris
  • defect/anomaly of lacrimal system
  • broad nose/nasal bridge
  • short columella/depressed nasal tip
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • high vaulted/narrow palate
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • premature greying of hair
  • dysplastic/thick/grooved fingernails
  • abnormal cry/voice/phonation disorder/nasal speech
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • microcornea
  • cataract/lens opacification
  • strabismus/squint
  • ptosis
  • lip pits/fistulae
  • cleft lip and palate
  • preaxial polydactyly (hand)
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome

HPO human phenotypes related to Branchiooculofacial Syndrome:

(show all 104)
id Description Frequency HPO Source Accession
1 low posterior hairline 92% HP:0002162
2 low-set, posteriorly rotated ears 90.4762% HP:0000368
3 overfolded helix 90.4762% HP:0000396
4 everted lower lip vermilion hallmark (90%) HP:0000232
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 abnormality of periauricular region hallmark (90%) HP:0000383
7 conductive hearing impairment hallmark (90%) HP:0000405
8 chorioretinal coloboma hallmark (90%) HP:0000567
9 deep philtrum hallmark (90%) HP:0002002
10 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
11 external ear malformation hallmark (90%) HP:0008572
12 sacrococcygeal pilonidal abnormality hallmark (90%) HP:0010767
13 nasolacrimal duct obstruction 74.359% HP:0000579
14 cryptorchidism 73% HP:0000028
15 proximal placement of thumb 72% HP:0009623
16 short neck 66% HP:0000470
17 elbow flexion contracture 64% HP:0002987
18 telecanthus 58% HP:0000506
19 ptosis 57% HP:0000508
20 myopia 57% HP:0000545
21 nystagmus 57% HP:0000639
22 atypical scarring of skin 57% HP:0000987
23 aplasia cutis congenita 57% HP:0001057
24 dermal atrophy 57% HP:0004334
25 abnormality of the teeth 56% HP:0000164
26 flared irregular metaphyses 51% HP:0000945
27 micrognathia typical (50%) HP:0000347
28 postnatal growth retardation typical (50%) HP:0008897
29 abnormality of the palate typical (50%) HP:0000174
30 dolichocephaly typical (50%) HP:0000268
31 abnormality of the nose typical (50%) HP:0000366
32 upslanted palpebral fissure typical (50%) HP:0000582
33 iris coloboma typical (50%) HP:0000612
34 lacrimation abnormality typical (50%) HP:0000632
35 microdontia typical (50%) HP:0000691
36 abnormality of the fingernails typical (50%) HP:0001231
37 intrauterine growth retardation typical (50%) HP:0001511
38 abnormality of the voice typical (50%) HP:0001608
39 neurological speech impairment typical (50%) HP:0002167
40 premature graying of hair typical (50%) HP:0002216
41 short stature typical (50%) HP:0004322
42 reduced number of teeth typical (50%) HP:0009804
43 non-midline cleft lip typical (50%) HP:0100335
44 upslanted palpebral fissure 48% HP:0000582
45 intrauterine growth retardation 47.0588% HP:0001511
46 anophthalmia 44% HP:0000528
47 microphthalmos 44% HP:0000568
48 hypoplastic superior helix 43% HP:0008559
49 intellectual disability, mild 41.6667% HP:0001256
50 conductive hearing impairment 36.8421% HP:0000405
51 hypospadias frequent (33%) HP:0000047
52 strabismus 30.5556% HP:0000486
53 gastroesophageal reflux 30% HP:0002020
54 cataract 24.2424% HP:0000518
55 premature graying of hair 23.6842% HP:0002216
56 dolichocephaly 23.0769% HP:0000268
57 seizures 23% HP:0001250
58 clinodactyly of the 5th finger 21.0526% HP:0004209
59 supraauricular pit 15% HP:0008606
60 renal agenesis occasional (7.5%) HP:0000104
61 cleft palate occasional (7.5%) HP:0000175
62 lower lip pit occasional (7.5%) HP:0000196
63 microcephaly occasional (7.5%) HP:0000252
64 sensorineural hearing impairment occasional (7.5%) HP:0000407
65 broad nasal tip occasional (7.5%) HP:0000455
66 preaxial hand polydactyly occasional (7.5%) HP:0001177
67 pyloric stenosis occasional (7.5%) HP:0002021
68 white forelock occasional (7.5%) HP:0002211
69 agenesis of cerebellar vermis occasional (7.5%) HP:0002335
70 postauricular pit occasional (7.5%) HP:0004464
71 malrotation of colon occasional (7.5%) HP:0004785
72 duplication of internal organs occasional (7.5%) HP:0005217
73 microtia occasional (7.5%) HP:0008551
74 multicystic kidney dysplasia occasional (7.5%) HP:0000003
75 microcornea occasional (7.5%) HP:0000482
76 strabismus occasional (7.5%) HP:0000486
77 ptosis occasional (7.5%) HP:0000508
78 cataract occasional (7.5%) HP:0000518
79 preaxial hand polydactyly occasional (7.5%) HP:0001177
80 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
81 lip pit occasional (7.5%) HP:0100267
82 autosomal dominant inheritance HP:0000006
83 renal cyst HP:0000107
84 cleft upper lip HP:0000204
85 malar flattening HP:0000272
86 hypertelorism HP:0000316
87 small forehead HP:0000350
88 short nasal septum HP:0000420
89 retinal coloboma HP:0000480
90 iris coloboma HP:0000612
91 single transverse palmar crease HP:0000954
92 nasal speech HP:0001611
93 hypoplastic fingernail HP:0001804
94 supernumerary nipples HP:0002558
95 abnormality of the immune system HP:0002715
96 kyphosis HP:0002808
97 hyperlordosis HP:0003307
98 preauricular pit HP:0004467
99 depressed nasal bridge HP:0005280
100 fusion of middle ear ossicles HP:0005473
101 wide intermamillary distance HP:0006610
102 short thumb HP:0009778
103 branchial anomaly HP:0009794
104 hamartoma HP:0010566

Drugs & Therapeutics for Branchiooculofacial Syndrome

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Drug clinical trials:

Search ClinicalTrials for Branchiooculofacial Syndrome

Search 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 Syndrome20 22 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

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MalaCards organs/tissues related to Branchiooculofacial Syndrome:

32
Skin, Eye, Kidney, Thymus

Animal Models for Branchiooculofacial Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0EYA1, TFAP2A
2MP:00107688.5PKP2, EYA1, TFAP2A
3MP:00053858.4PKP2, EYA1, TFAP2A

Publications for Branchiooculofacial Syndrome

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Articles related to Branchiooculofacial Syndrome:

idTitleAuthorsYear
1
Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family. (23106675)
2012
2
Branchiooculofacial Syndrome (21634087)
1993

Variations for Branchiooculofacial Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1TFAP2Ap.Leu249ProVAR_045838
2TFAP2Ap.Arg254GlyVAR_045839
3TFAP2Ap.Arg255GlyVAR_045840
4TFAP2Ap.Gly262GluVAR_045841

Clinvar genetic disease variations for Branchiooculofacial Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TFAP2ANM_001042425.1(TFAP2A): c.751A> G (p.Arg251Gly)single nucleotide variantPathogenicrs121909574GRCh37Chr 6, 10404742: 10404742
2TFAP2ANM_001042425.1(TFAP2A): c.773G> A (p.Gly258Glu)single nucleotide variantPathogenicrs121909575GRCh37Chr 6, 10402823: 10402823
3TFAP2ATFAP2A, 12-BP DEL, NT697deletionPathogenic
4TFAP2ATFAP2A, PHE319SERsingle nucleotide variantPathogenic
5TFAP2ATFAP2A, 18-BP DEL/6-BP INS, NT828indelPathogenic
6TFAP2ANM_001042425.1(TFAP2A): c.874G> A (p.Glu292Lys)single nucleotide variantPathogenicrs267607108GRCh37Chr 6, 10400820: 10400820
7TFAP2ANM_001042425.1(TFAP2A): c.698G> A (p.Arg233Gln)single nucleotide variantPathogenicrs151344525GRCh37Chr 6, 10404795: 10404795

Expression for genes affiliated with Branchiooculofacial Syndrome

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Expression patterns in normal tissues for genes affiliated with Branchiooculofacial Syndrome

Search GEO for disease gene expression data for Branchiooculofacial Syndrome.

Pathways for genes affiliated with Branchiooculofacial Syndrome

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.5PKP2, EYA1, TFAP2A

Biological processes related to Branchiooculofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of neuron differentiationGO:0456649.4EYA1, TFAP2A
2outflow tract morphogenesisGO:0031519.3EYA1, TFAP2A
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.3EYA1, TFAP2A
4sensory perception of soundGO:0076059.2TFAP2A, EYA1
5negative regulation of cell proliferationGO:0082858.7PKP2, TFAP2A

Products for genes affiliated with Branchiooculofacial Syndrome

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Sources for Branchiooculofacial Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet