BOFS
MCID: BRN003
MIFTS: 46

Branchiooculofacial Syndrome (BOFS) malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for Branchiooculofacial Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 polydactyly and microphthalmia, 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)). Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are hearing/vestibular/ear and mortality/aging.

Disease Ontology:9 An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.

Genetics Home Reference:22 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:48 113620

GeneReviews summary for bofs

Aliases & Classifications for Branchiooculofacial Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
branchio-oculo-facial syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

branchiooculofacial syndrome 9 10 20 44 21 23 48 11
branchio-oculo-facial syndrome 22 46 50 63
hemangiomatous branchial clefts-lip pseudocleft syndrome 44 22
bof syndrome 20 46
bofs 22 50
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging 22
branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging 44
lip pseudocleft-hemangiomatous branchial cyst syndrome 44
lip pseudocleft-hemagiomatous branchial cyst syndrome 22
bofs syndrome 44


External Ids:

Disease Ontology9 DOID:0050691
OMIM48 113620
SNOMED-CT via Orphanet60 449821007
ICD10 via Orphanet27 Q18.8
UMLS via Orphanet64 C0376524

Related Diseases for Branchiooculofacial Syndrome

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18GeneCards, 19GeneDecks
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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
3arrhythmogenic right ventricular dysplasia10.4
4oculootofacial dysplasia10.4
5pulmonic stenosis10.4
6ectopic thymus10.1
7focal dermal hypoplasia10.1
8ectodermal dysplasia10.1
9tongue squamous cell carcinoma10.0PKP2, TFAP2A

Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Symptoms for Branchiooculofacial Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

113620

Clinical features from OMIM:

113620

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Branchiooculofacial Syndrome

Genetic Tests for Branchiooculofacial Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Branchiooculofacial Syndrome:

id Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome21 23 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

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34MalaCards
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MalaCards organs/tissues related to Branchiooculofacial Syndrome:

34
Skin, Eye, Kidney, Thymus

Animal Models for Branchiooculofacial Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

38
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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Branchiooculofacial Syndrome:

65
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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Branchiooculofacial Syndrome

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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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17Gene Ontology
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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:0456649.4TFAP2A, EYA1
2outflow tract morphogenesisGO:0031519.3EYA1, TFAP2A
3positive regulation of transcription from RNA polymerase II promoterGO:0459449.3EYA1, TFAP2A
4sensory perception of soundGO:0076059.2EYA1, TFAP2A
5negative regulation of cell proliferationGO:0082858.7TFAP2A, PKP2

Products for genes affiliated with Branchiooculofacial Syndrome

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Branchiooculofacial Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet