BOFS
MCID: BRN003
MIFTS: 44

Branchiooculofacial Syndrome (BOFS) malady

Fetal category

Summaries for Branchiooculofacial Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 low set ears/posteriorly rotated ears, ptosis and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. 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 and thymus, 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:47 113620

GeneReviews summary for bofs

Aliases & Classifications for Branchiooculofacial Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
branchio-oculo-facial syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

branchiooculofacial syndrome 8 9 19 43 20 22 47 10
branchio-oculo-facial syndrome 21 45 49 61
hemangiomatous branchial clefts-lip pseudocleft syndrome 43 21
bof syndrome 19 45
bofs 21 49
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 43
lip pseudocleft-hemangiomatous branchial cyst syndrome 43
lip pseudocleft-hemagiomatous branchial cyst syndrome 21
bofs syndrome 43


External Ids:

Disease Ontology8 DOID:0050691
OMIM47 113620
ICD10 via Orphanet26 Q18.8
UMLS via Orphanet62 C0376524

Related Diseases for Branchiooculofacial Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia30.5SALL1
2polydactyly30.5SALL1
3coloboma10.3
4micro syndrome10.3
5char syndrome10.3
6oculootofacial dysplasia10.3
7pulmonic stenosis10.3
8ectopic thymus10.1
9focal dermal hypoplasia10.0
10focal facial dermal dysplasia10.0
11facial ectodermal dysplasia10.0
12ectodermal dysplasia10.0
13goldenhar syndrome10.0SALL1
14renal dysplasia10.0SALL1
15branchiootorenal syndrome10.0EYA1
16townes-brocks syndrome10.0SALL1, EYA1
17renal agenesis10.0EYA1, SALL1

Graphical network of diseases related to Branchiooculofacial Syndrome:



Diseases related to branchiooculofacial syndrome

Clinical Features for Branchiooculofacial Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

113620

Clinical synopsis from OMIM:

113620

Symptoms:

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

Drugs & Therapeutics for Branchiooculofacial Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Branchiooculofacial Syndrome:

id Genetic test Affiliating Genes
1 Branchiooculofacial Syndrome20 22 TFAP2A

Anatomical Context for Branchiooculofacial Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Branchiooculofacial Syndrome:

33
Skin, Thymus

Animal Models for Branchiooculofacial Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Branchiooculofacial Syndrome:

37
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

Sources:
51PubMed
See all sources

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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Branchiooculofacial Syndrome:

63
id Symbol AA change Variation SNP ID
1TFAP2Ap.Leu249ProVAR_045838
2TFAP2Ap.Arg254GlyVAR_045839
3TFAP2Ap.Arg255GlyVAR_045840
4TFAP2Ap.Gly262GluVAR_045841

Expression for genes affiliated with Branchiooculofacial Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Branchiooculofacial Syndrome

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Branchiooculofacial Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 2410.1ADH5, TFAP2A, SALL1
2arginine458.8ADH5, TFAP2A, SALL1

GO Terms for genes affiliated with Branchiooculofacial Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Branchiooculofacial Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet