BOR
MCID: BRN042
MIFTS: 43

Branchiootic Syndrome (BOR)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Branchiootic Syndrome

MalaCards integrated aliases for Branchiootic Syndrome:

Name: Branchiootic Syndrome 11 19 58 43 14
Branchiootic Dysplasia 11 19
Bo Syndrome 11 53
Branchiootic Syndrome 1 71
Bo Syndrome 1 19
Bos1 19
Bor 11

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060232
MeSH 43 C537104
ICD10 31 Q87.0
ICD10 via Orphanet 32 Q87.0
Orphanet 58 ORPHA52429
UMLS 71 C1865143

Summaries for Branchiootic Syndrome

GARD: 19 Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

MalaCards based summary: Branchiootic Syndrome, also known as branchiootic dysplasia, is related to branchiootic syndrome 1 and branchiootorenal syndrome. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are DNA Double Strand Break Response and Development of ureteric collection system. Affiliated tissues include skin, lung and bone marrow, and related phenotypes are preauricular pit and sensorineural hearing impairment

Orphanet: 58 Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

Disease Ontology: 11 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.

Related Diseases for Branchiootic Syndrome

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 32.9 SIX1 EYA1
2 branchiootorenal syndrome 31.5 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
3 renal hypoplasia 30.3 SIX5 SIX2 SIX1 SALL1 EYA1
4 renal agenesis, bilateral 30.1 GREB1L EYA1
5 renal hypodysplasia/aplasia 1 30.1 SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
6 branchiootorenal syndrome 1 30.0 SIX1 EYA1
7 branchiooculofacial syndrome 30.0 SALL1 MSX1 EYA1
8 oligomeganephronia 30.0 SALL1 EYA1
9 craniofacial microsomia 29.7 ZYG11B YPEL1 XXYLT1 SALL1 MSX1
10 branchiootic syndrome 3 11.6
11 branchiootic syndrome 2 11.3
12 chromosome 8q12.1-q21.2 deletion syndrome 11.2
13 branchiootorenal syndrome 2 11.0
14 eustachian tube disease 10.3 SIX5 EYA1
15 rare genetic deafness 10.3
16 patulous eustachian tube 10.3 SIX5 SIX1 EYA1
17 bilateral renal aplasia 10.3 GREB1L EYA1
18 superior semicircular canal dehiscence 10.2 GREB1L EYA4
19 lacrimal duct obstruction 10.2 SIX5 EYA1
20 bardet-biedl syndrome 8 10.2 SIX6 SIX4
21 preauricular fistulae, congenital 10.2
22 branchiootorenal spectrum disorder 10.2
23 autosomal dominant nonsyndromic deafness 10.2 SIX1 GREB1L EYA4 EYA1
24 wilms tumor 1 10.1 SIX2 SIX1 SALL1 EYA1
25 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.1 SIX5 FOXI1 EYA1
26 papillorenal syndrome 10.1 SIX5 SIX2 SIX1 SALL1 EYA1
27 kidney disease 10.1
28 townes-brocks syndrome 10.1 SIX5 SIX2 SIX1 SALL1 EYA1
29 duane retraction syndrome 1 10.1
30 fraser syndrome 1 10.1
31 duane retraction syndrome 10.1
32 branchial arch defects 10.0
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
34 vesicoureteral reflux 10.0 SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
35 congenital anomalies of kidney and urinary tract 2 10.0 SIX5 EYA1
36 coloboma of macula 10.0 SIX6 SIX1 SALL1 MSX1 EYA1
37 deafness, autosomal dominant 10 10.0 SIX5 SIX1 EYA4 EYA3 EYA2 EYA1
38 cakut 10.0 SIX5 SIX2 SIX1 SALL1 GREB1L EYA1
39 microphthalmia 10.0 SIX6 SALL1 EYA3 EYA2 EYA1
40 hydrocephalus, autosomal dominant 10.0
41 ear malformation 10.0
42 oculodentodigital dysplasia 10.0
43 parkinson disease, late-onset 10.0
44 cervical cancer 10.0
45 sensorineural hearing loss 10.0
46 hydrocephalus 10.0
47 bell's palsy 10.0
48 personality disorder 10.0
49 trichorhinophalangeal syndrome, type ii 9.9
50 treacher collins syndrome 1 9.9

Graphical network of the top 20 diseases related to Branchiootic Syndrome:



Diseases related to Branchiootic Syndrome

Symptoms & Phenotypes for Branchiootic Syndrome

Human phenotypes related to Branchiootic Syndrome:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preauricular pit 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004467
2 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
3 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
4 abnormality of the inner ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000359
5 atresia of the external auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0000413
6 branchial fistula 58 30 Frequent (33%) Frequent (79-30%)
HP:0009795
7 morphological abnormality of the middle ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0008609
8 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
9 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
10 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
11 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
12 preauricular skin tag 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000384
13 lip pit 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100267
14 abnormal nasolacrimal system morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000614
15 hearing impairment 58 Very frequent (99-80%)
16 abnormality of the outer ear 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Branchiootic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 EYA1 EYA2 EYA3 EYA4 GREB1L MSX1
2 hearing/vestibular/ear MP:0005377 10.06 EYA1 EYA2 EYA3 EYA4 FOXI1 MSX1
3 renal/urinary system MP:0005367 10.03 EYA1 EYA3 FOXI1 GREB1L SALL1 SIX1
4 embryo MP:0005380 9.97 EYA1 EYA4 GREB1L MSX1 SALL1 SIX1
5 digestive/alimentary MP:0005381 9.86 EYA1 EYA4 GREB1L MSX1 SALL1 SIX1
6 behavior/neurological MP:0005386 9.77 EYA1 EYA2 EYA3 FOXI1 MSX1 SALL1
7 craniofacial MP:0005382 9.7 EYA1 EYA4 FOXI1 MSX1 SIX1 SIX2
8 vision/eye MP:0005391 9.32 EYA1 EYA3 MSX1 SIX1 SIX4 SIX5

Drugs & Therapeutics for Branchiootic Syndrome

Search Clinical Trials, NIH Clinical Center for Branchiootic Syndrome

Cochrane evidence based reviews: branchiootic syndrome

Genetic Tests for Branchiootic Syndrome

Anatomical Context for Branchiootic Syndrome

Organs/tissues related to Branchiootic Syndrome:

MalaCards : Skin, Lung, Bone Marrow, Kidney, Bone

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

(show top 50) (show all 102)
# Title Authors PMID Year
1
A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. 53 62
18763178 2009
2
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. 53 62
16813606 2006
3
A family affected by branchio-oto syndrome with EYA1 mutations. 53 62
11683347 2001
4
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 53 62
10471511 1999
5
BOR and BO syndromes are allelic defects of EYA1. 53 62
9359046 1997
6
Assessment of genotyping array performance for genome-wide association studies and imputation in African cattle. 62
36057548 2022
7
Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis. 62
35946779 2022
8
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. 62
35698919 2022
9
[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]. 62
35446969 2022
10
Fungicide resistance characterized across seven modes of action in Botrytis cinerea isolated from Australian vineyards. 62
34854539 2022
11
Preliminary Study of Resistance Mechanism of Botrytis cinerea to SYAUP-CN-26. 62
35164201 2022
12
Machine Learning Analysis Reveals Biomarkers for the Detection of Neurological Diseases. 62
35711735 2022
13
Combined Abiotic Stresses Repress Defense and Cell Wall Metabolic Genes and Render Plants More Susceptible to Pathogen Infection. 62
34579478 2021
14
[Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome]. 62
34666446 2021
15
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis. 62
33624842 2021
16
A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome. 62
34160378 2021
17
Identification and Characterization of Fungicide Resistance in Botrytis Populations from Small Fruit Fields in the Mid-Atlantic United States. 62
33719541 2021
18
Burnout syndrome in medical oncologists during the COVID-19 pandemic: Argentinian national survey. 62
33912238 2021
19
Characterization of the Field Fludioxonil Resistance and Its Molecular Basis in Botrytis cinerea from Shanghai Province in China. 62
33525426 2021
20
Biological Characteristics and Molecular Mechanism of Fludioxonil Resistance in Botrytis cinerea From Henan Province of China. 62
31999220 2020
21
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. 62
30908667 2020
22
Comparative quantitative proteomics of osmotic signal transduction mutants in Botrytis cinerea explain mutant phenotypes and highlight interaction with cAMP and Ca2+ signalling pathways. 62
31733416 2020
23
Cell death regulation but not abscisic acid signaling is required for enhanced immunity to Botrytis in Arabidopsis cuticle-permeable mutants. 62
31328223 2019
24
EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families. 62
31102969 2019
25
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 62
30905259 2019
26
New rhodamine B-based chromo-fluorogenic probes for highly selective detection of aluminium(iii) ions and their application in living cell imaging. 62
35517253 2019
27
Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family. 62
30548429 2019
28
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 62
31379922 2019
29
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 62
30221713 2018
30
Sensitivity of Botrytis cinerea Isolates from Conventional and Organic Strawberry Fields in Brazil to Azoxystrobin, Iprodione, Pyrimethanil, and Thiophanate-Methyl. 62
30125196 2018
31
Chemical Composition of Myrtle (Myrtus communis L.) Berries Essential Oils as Observed in a Collection of Genotypes. 62
30274291 2018
32
Detection and Molecular Characterization of Resistance to the Dicarboximide and Benzamide Fungicides in Botrytis cinerea From Tomato in Hubei Province, China. 62
30673571 2018
33
Characterization of Botrytis cinerea isolates collected on pepper in Southern Turkey by using molecular markers, fungicide resistance genes and virulence assay. 62
29505818 2018
34
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? 62
29257230 2018
35
Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. 62
28982678 2017
36
Botrytis fragariae, a New Species Causing Gray Mold on Strawberries, Shows High Frequencies of Specific and Efflux-Based Fungicide Resistance. 62
28235878 2017
37
A gapless genome sequence of the fungus Botrytis cinerea. 62
26913498 2017
38
Characterization of Resistance to Six Chemical Classes of Site-Specific Fungicides Registered for Gray Mold Control on Strawberry in Spain. 62
30682911 2016
39
Molecular and Biochemical Characterization of Laboratory and Field Mutants of Botrytis cinerea Resistant to Fludioxonil. 62
30686204 2016
40
Overexpression of native Saccharomyces cerevisiae ER-to-Golgi SNARE genes increased heterologous cellulase secretion. 62
26450509 2016
41
A Botrytis cinerea Population from a Single Strawberry Field in Germany has a Complex Fungicide Resistance Pattern. 62
30695938 2015
42
Germinal mosaicism in a family with BO syndrome. 62
25780253 2015
43
Independent Emergence of Resistance to Seven Chemical Classes of Fungicides in Botrytis cinerea. 62
25317841 2015
44
Biopsy-verified bronchiolitis obliterans and other noninfectious lung pathologies after allogeneic hematopoietic stem cell transplantation. 62
25498923 2015
45
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. 62
25926005 2015
46
SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract. 62
24899122 2014
47
De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. 62
25130554 2014
48
Development of a two-step high-resolution melting (HRM) analysis for screening sequence variants associated with resistance to the QoIs, benzimidazoles and dicarboximides in airborne inoculum of Botrytis cinerea. 62
25196894 2014
49
Are we near to an effective drug treatment for bronchiolitis obliterans? 62
25154562 2014
50
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. 62
24933236 2014

Variations for Branchiootic Syndrome

Expression for Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for Branchiootic Syndrome

GO Terms for Branchiootic Syndrome

Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulator complex GO:0005667 9.47 SIX6 SIX5 SIX4 SIX2 SIX1 MSX1

Biological processes related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.62 ZNF597 SIX6 SIX5 SIX4 SIX2 SIX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.46 EYA1 FOXI1 MSX1 SALL1 SIX1 SIX2
3 chromatin organization GO:0006325 10.34 ZNF462 EYA4 EYA3 EYA2 EYA1
4 regulation of DNA-templated transcription GO:0006355 10.29 FOXI1 MSX1 SIX1 SIX2 SIX4 SIX5
5 kidney development GO:0001822 10.22 SIX2 SIX1 SALL1 GREB1L
6 protein localization to nucleus GO:0034504 10.1 SIX4 SIX1 MSX1
7 embryonic cranial skeleton morphogenesis GO:0048701 10.02 SIX1 SIX2 SIX4
8 inner ear morphogenesis GO:0042472 10.02 SIX4 SIX1 FOXI1 EYA1
9 branching involved in ureteric bud morphogenesis GO:0001658 10.01 EYA1 GREB1L SALL1 SIX1
10 ureteric bud development GO:0001657 10 SIX1 SALL1 EYA1
11 aorta morphogenesis GO:0035909 9.97 SIX1 EYA1
12 pharyngeal system development GO:0060037 9.97 SIX4 SIX1 EYA1
13 positive regulation of DNA repair GO:0045739 9.97 EYA4 EYA3 EYA2 EYA1
14 generation of neurons GO:0048699 9.96 SIX4 SIX1
15 myoblast migration GO:0051451 9.96 SIX1 SIX4
16 metanephros development GO:0001656 9.96 SIX2 GREB1L EYA1
17 metanephric mesenchyme development GO:0072075 9.95 SIX4 SIX1
18 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.95 SIX2 SALL1
19 anatomical structure morphogenesis GO:0009653 9.93 EYA1 EYA3 EYA4 FOXI1 SIX2 SIX4
20 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.92 EYA4 EYA3 EYA2 EYA1
21 regulation of synaptic assembly at neuromuscular junction GO:0008582 9.91 SIX1 SIX4
22 striated muscle tissue development GO:0014706 9.91 EYA1 EYA2
23 embryonic skeletal system morphogenesis GO:0048704 9.91 SIX4 SIX2 SIX1 EYA1
24 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.89 SIX1 EYA1
25 positive regulation of ureteric bud formation GO:0072107 9.88 SIX4 SIX1
26 trigeminal ganglion development GO:0061551 9.88 SIX4 SIX1
27 myotome development GO:0061055 9.87 SIX4 SIX1
28 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.84 SIX4 SIX1
29 tongue development GO:0043586 9.83 SIX4 SIX1
30 olfactory placode formation GO:0030910 9.83 SIX4 SIX1
31 histone modification GO:0016570 9.82 EYA3 EYA2 EYA1
32 fungiform papilla morphogenesis GO:0061197 9.81 SIX4 SIX1
33 otic vesicle development GO:0071599 9.8 SIX1 EYA1
34 mesodermal cell fate specification GO:0007501 9.73 SIX2 EYA2 EYA1
35 middle ear morphogenesis GO:0042474 9.56 SIX2 SIX1 MSX1 EYA1
36 anatomical structure development GO:0048856 9.32 SIX4 SIX1 EYA4 EYA3 EYA2 EYA1

Molecular functions related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.36 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.34 FOXI1 SALL1 SIX1 SIX2 SIX4 SIX5
3 DNA binding GO:0003677 10.18 ZNF597 ZNF462 SIX6 SIX5 SIX4 SIX2
4 sequence-specific double-stranded DNA binding GO:1990837 10 FOXI1 MSX1 SIX1 SIX2 SIX4 SIX6
5 protein tyrosine phosphatase activity GO:0004725 9.97 EYA1 EYA2 EYA3 EYA4
6 sequence-specific DNA binding GO:0043565 9.86 SIX5 SIX4 SIX2 SIX1 MSX1 FOXI1
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 ZNF597 SIX5 SIX4 SIX2 SIX1 MSX1
8 phosphoprotein phosphatase activity GO:0004721 9.62 EYA4 EYA3 EYA2 EYA1
9 histone H2Y142 phosphatase activity GO:0140793 9.1 EYA3 EYA2 EYA1

Sources for Branchiootic Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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