BOR
MCID: BRN042
MIFTS: 34

Branchiootic Syndrome (BOR)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootic Syndrome

MalaCards integrated aliases for Branchiootic Syndrome:

Name: Branchiootic Syndrome 12 20 58 15
Branchiootic Dysplasia 12 20
Bo Syndrome 12 54
Branchiootic Syndrome 1 70
Bo Syndrome 1 20
Bos1 20
Bor 12

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060232
ICD10 32 Q87.0
ICD10 via Orphanet 33 Q87.0
Orphanet 58 ORPHA52429
UMLS 70 C1865143

Summaries for Branchiootic Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52429 Definition 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 3 and branchiootic syndrome 1. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, and related phenotypes are preauricular pit and sensorineural hearing impairment

Disease Ontology : 12 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 72)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 3 33.0 SIX1 MIR9718
2 branchiootic syndrome 1 32.9 SLC26A4 SIX1 EYA1
3 branchiootorenal syndrome 2 31.9 SOBP SIX5 SIX1 EYA1
4 branchiootorenal spectrum disorder 30.8 SIX5 SIX1 EYA1
5 renal hypoplasia 30.4 SIX2 SIX1 SALL1 PAX2 EYA1
6 renal hypodysplasia/aplasia 1 30.3 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
7 ear malformation 30.3 SLC26A4 EYA1
8 oligomeganephronia 30.2 PAX2 EYA1
9 branchiootorenal syndrome 1 30.2 SIX5 SIX4 SIX1 EYA4 EYA1
10 branchiootorenal syndrome 29.7 SLC26A4 SIX6 SIX5 SIX4 SIX2 SIX1
11 branchiootorenal/branchiootic syndrome 11.4
12 chromosome 8q12.1-q21.2 deletion syndrome 11.3
13 branchiootic syndrome 2 11.3
14 lacrimal duct obstruction 10.4 SIX5 EYA1
15 bilateral renal aplasia 10.4 PAX2 EYA1
16 complex chromosomal rearrangement 10.3 SIX6 SIX1
17 deafness, autosomal dominant 23 10.3 SIX1 MIR9718
18 congenital anomalies of kidney and urinary tract 2 10.3 SIX5 PAX2 EYA1
19 prune belly syndrome 10.3 SIX1 SALL1 PAX2
20 eustachian tube disease 10.3 SIX1 EYA1
21 syndromic microphthalmia 10.3 SIX6 EYA2 EYA1
22 cardiomyopathy, dilated, 1j 10.3 SIX4 EYA4 EYA2 EYA1
23 patulous eustachian tube 10.3 SIX1 EYA1
24 rare genetic deafness 10.3
25 autosomal dominant nonsyndromic deafness 10.3 SLC26A4 SIX1 EYA4 EYA1
26 malignant peripheral nerve sheath tumor 10.3 SIX1 EYA4 EYA2 EYA1
27 deafness, autosomal dominant 10 10.3 SIX5 SIX1 EYA4 EYA2 EYA1
28 nonsyndromic hearing loss 10.2 SLC26A4 SIX1 EYA4
29 coloboma of macula 10.2 SIX6 SALL1 PAX2 EYA1
30 papillorenal syndrome 10.2 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
31 townes-brocks syndrome 10.2 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
32 x-linked nonsyndromic deafness 10.2 SLC26A4 EYA1
33 vesicoureteral reflux 1 10.2 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
34 cakut 10.2 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
35 holoprosencephaly 10.2 SIX6 SIX2 SIX1 PAX2 EYA4
36 microphthalmia 10.1 SIX6 SALL1 PAX2 EYA2 EYA1
37 duane retraction syndrome 1 10.1
38 fraser syndrome 1 10.1
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
40 branchial arch defects 10.0
41 hydrocephalus, autosomal dominant 10.0
42 sensorineural hearing loss 10.0
43 hydrocephalus 10.0
44 kidney disease 10.0
45 trichorhinophalangeal syndrome 10.0
46 wilms tumor 1 9.9 SIX2 SIX1 PAX2 EYA1
47 van der woude syndrome 1 9.9
48 trichorhinophalangeal syndrome, type ii 9.9
49 treacher collins syndrome 1 9.9
50 renal dysplasia 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 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004467
2 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
3 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
4 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
5 branchial fistula 58 31 frequent (33%) Frequent (79-30%) HP:0009795
6 morphological abnormality of the middle ear 58 31 frequent (33%) Frequent (79-30%) HP:0008609
7 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
8 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
9 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
10 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
11 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
12 lip pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0100267
13 abnormal nasolacrimal system morphology 31 occasional (7.5%) HP:0000614
14 hearing impairment 58 Very frequent (99-80%)
15 abnormality of the inner ear 58 Frequent (79-30%)
16 abnormality of the nasolacrimal system 58 Occasional (29-5%)
17 abnormality of the outer ear 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Branchiootic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.23 EYA1 EYA4 PAX2 SALL1 SIX1 SIX4

Drugs & Therapeutics for Branchiootic Syndrome

Search Clinical Trials , NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

Anatomical Context for Branchiootic Syndrome

MalaCards organs/tissues related to Branchiootic Syndrome:

40
Kidney

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

(show all 14)
# Title Authors PMID Year
1
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. 61 54
16813606 2006
2
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis. 61
33624842 2021
3
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
4
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 61
31379922 2019
5
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 61
30221713 2018
6
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. 61
25926005 2015
7
SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract. 61
24899122 2014
8
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. 61
24933236 2014
9
Branchiootic syndrome--a clinical case report and review of the literature. 61
22901925 2012
10
A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. 54
18763178 2009
11
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. 61
18666230 2008
12
A family affected by branchio-oto syndrome with EYA1 mutations. 54
11683347 2001
13
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 54
10471511 1999
14
BOR and BO syndromes are allelic defects of EYA1. 54
9359046 1997

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 factor complex GO:0005667 9.02 SIX6 SIX5 SIX4 SIX2 SIX1

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.23 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 SIX5 SIX4 SIX2 SIX1 SALL1 PAX2
3 positive regulation of transcription, DNA-templated GO:0045893 10.09 SIX4 SIX1 SALL1 PAX2 EYA1
4 multicellular organism development GO:0007275 10.09 SIX6 SIX5 SIX4 SIX2 SIX1 PAX2
5 negative regulation of transcription, DNA-templated GO:0045892 10.07 SIX5 SIX4 SIX1 SALL1 PAX2
6 anatomical structure morphogenesis GO:0009653 9.92 SIX4 SIX2 EYA4 EYA1
7 sensory perception of sound GO:0007605 9.88 SOBP SLC26A4 SIX1 EYA4 EYA1
8 kidney development GO:0001822 9.86 SIX2 SIX1 SALL1
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.85 EYA4 EYA2 EYA1
10 ureteric bud development GO:0001657 9.8 SIX1 SALL1 EYA1
11 regulation of protein localization GO:0032880 9.8 SLC26A4 SIX4 SIX1 BORA
12 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.79 EYA4 EYA2 EYA1
13 embryonic cranial skeleton morphogenesis GO:0048701 9.76 SIX4 SIX2 SIX1
14 embryonic skeletal system morphogenesis GO:0048704 9.76 SIX4 SIX2 SIX1 EYA1
15 positive regulation of DNA repair GO:0045739 9.75 EYA4 EYA2 EYA1
16 cochlea morphogenesis GO:0090103 9.72 SIX1 PAX2 EYA1
17 middle ear morphogenesis GO:0042474 9.71 SIX2 SIX1 EYA1
18 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.7 SIX4 SIX1 PAX2
19 pharyngeal system development GO:0060037 9.69 SIX4 SIX1 EYA1
20 neuron fate specification GO:0048665 9.68 SIX1 EYA1
21 aorta morphogenesis GO:0035909 9.67 SIX1 EYA1
22 regulation of epithelial cell proliferation GO:0050678 9.67 SIX4 SIX1
23 branching involved in ureteric bud morphogenesis GO:0001658 9.67 SIX1 SALL1 PAX2 EYA1
24 generation of neurons GO:0048699 9.66 SIX4 SIX1
25 tongue development GO:0043586 9.66 SIX4 SIX1
26 myoblast migration GO:0051451 9.65 SIX4 SIX1
27 otic vesicle development GO:0071599 9.65 SIX1 EYA1
28 regulation of synaptic growth at neuromuscular junction GO:0008582 9.64 SIX4 SIX1
29 positive regulation of ureteric bud formation GO:0072107 9.64 SIX4 SIX1
30 trigeminal ganglion development GO:0061551 9.63 SIX4 SIX1
31 striated muscle tissue development GO:0014706 9.63 EYA2 EYA1
32 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.61 SIX1 EYA1
33 myotome development GO:0061055 9.6 SIX4 SIX1
34 olfactory placode formation GO:0030910 9.59 SIX4 SIX1
35 metanephric mesenchyme development GO:0072075 9.58 SIX4 SIX1 PAX2
36 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.57 SIX4 SIX1
37 fungiform papilla morphogenesis GO:0061197 9.56 SIX4 SIX1
38 inner ear morphogenesis GO:0042472 9.55 SOBP SIX4 SIX1 PAX2 EYA1
39 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.5 SIX2 SALL1 PAX2
40 histone dephosphorylation GO:0016576 9.43 EYA4 EYA2 EYA1
41 mesodermal cell fate specification GO:0007501 9.26 SIX2 PAX2 EYA2 EYA1
42 anatomical structure development GO:0048856 9.1 SIX4 SIX1 PAX2 EYA4 EYA2 EYA1

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.62 SIX2 PAX2 EYA4 EYA2
2 sequence-specific double-stranded DNA binding GO:1990837 9.55 SIX6 SIX4 SIX2 SIX1 PAX2
3 phosphoprotein phosphatase activity GO:0004721 9.54 EYA4 EYA2 EYA1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
5 protein tyrosine phosphatase activity GO:0004725 9.43 EYA4 EYA2 EYA1
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1

Sources for Branchiootic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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