BOFS
MCID: BRN003
MIFTS: 50

Branchiooculofacial Syndrome (BOFS) malady

Fetal diseases category

Summaries for Branchiooculofacial Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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: Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to microphthalmia and polydactyly, and has symptoms including microcornea, intrauterine growth retardation and short stature/dwarfism/nanism. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)). The compounds zinc and arginine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and cardiovascular system.

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, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

branchiooculofacial syndrome 8 9 19 42 20 22 46 10
branchio-oculo-facial syndrome 21 44 48 60
hemangiomatous branchial clefts-lip pseudocleft syndrome 42 21
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-hemangiomatous branchial cyst syndrome 42
lip pseudocleft-hemagiomatous branchial cyst syndrome 21
bofs syndrome 42


External Ids:

Disease Ontology8 DOID:0050691
OMIM46 113620
SNOMED-CT via Orphanet57 449821007
ICD10 via Orphanet26 Q18.8
UMLS via Orphanet61 C0376524

Related Diseases for Branchiooculofacial Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Branchiooculofacial Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.5SALL1
2polydactyly30.4SALL1
3arrhythmogenic right ventricular dysplasia10.3
4oculootofacial dysplasia10.3
5ectopic thymus10.1
6focal dermal hypoplasia10.0
7goldenhar syndrome10.0SALL1
8renal dysplasia10.0SALL1
9branchiootorenal syndrome10.0EYA1
10townes-brocks syndrome10.0SALL1, EYA1
11renal agenesis10.0SALL1, EYA1

Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Clinical Features for Branchiooculofacial Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

113620

Clinical synopsis from OMIM:

113620

Symptoms:

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

Drugs & Therapeutics for Branchiooculofacial Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Branchiooculofacial Syndrome

Drug clinical trials:

Search ClinicalTrials for Branchiooculofacial Syndrome

Search NIH Clinical Center for Branchiooculofacial Syndrome

Search CenterWatch for Branchiooculofacial Syndrome

Genetic Tests for Branchiooculofacial Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8TFAP2A, SALL1, EYA1
2MP:00053857.3EYA1, SALL1, TFAP2A, PKP2, ADH5
3MP:00107687.0ADH5, DACH1, PKP2, TFAP2A, SALL1, EYA1

Publications for Branchiooculofacial Syndrome

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50PubMed
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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

Genetic Variations for Branchiooculofacial Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Branchiooculofacial Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TFAP2Ap.Leu249ProVAR_045838
2TFAP2Ap.Arg254GlyVAR_045839
3TFAP2Ap.Arg255GlyVAR_045840
4TFAP2Ap.Gly262GluVAR_045841

Expression for genes affiliated with Branchiooculofacial Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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44Novoseek, 24HMDB
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Compounds related to Branchiooculofacial Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1ADH5, TFAP2A, SALL1
2arginine448.8ADH5, TFAP2A, SALL1

GO Terms for genes affiliated with Branchiooculofacial Syndrome

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16Gene Ontology
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Cellular components related to Branchiooculofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.1ADH5, DACH1, PKP2, TFAP2A, SALL1, EYA1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription by competitive promoter bindingGO:0109449.7DACH1, TFAP2A
2kidney developmentGO:0018229.6TFAP2A, SALL1
3regulation of neuron differentiationGO:0456649.4EYA1, TFAP2A
4outer ear morphogenesisGO:0424739.4SALL1, EYA1
5negative regulation of cell migrationGO:0303369.4PKP2, DACH1
6heart developmentGO:0075079.4PKP2, SALL1
7outflow tract morphogenesisGO:0031519.4TFAP2A, EYA1
8branching involved in ureteric bud morphogenesisGO:0016589.3SALL1, EYA1
9sensory perception of soundGO:0076059.1TFAP2A, EYA1
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.5EYA1, SALL1, TFAP2A

Molecular functions related to Branchiooculofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negativeGO:0010789.5DACH1, TFAP2A

Products for genes affiliated with Branchiooculofacial Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet