MCID: BRN006
MIFTS: 47

Branchiootorenal Syndrome

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

Aliases & Classifications for Branchiootorenal Syndrome

MalaCards integrated aliases for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 12 54 60 15
Branchio-Oto-Renal Syndrome 12 77 38 45 74
Bor Syndrome 54 60 56
Branchiootorenal Dysplasia 12 54
Melnick-Fraser Syndrome 12 54
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
bor syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14702
KEGG 38 H00453
MeSH 45 D019280
NCIt 51 C98983
SNOMED-CT 69 290006
MESH via Orphanet 46 D019280
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C0265234
Orphanet 60 ORPHA107
UMLS 74 C0265234

Summaries for Branchiootorenal Syndrome

NIH Rare Diseases : 54 Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.

MalaCards based summary : Branchiootorenal Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome 1 and branchiooculofacial syndrome. An important gene associated with Branchiootorenal Syndrome is SIX5 (SIX Homeobox 5). Affiliated tissues include kidney, skin and bone, and related phenotypes are hearing impairment and external ear malformation

Wikipedia : 77 Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an... more...

Related Diseases for Branchiootorenal Syndrome

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1 34.1 EYA1 SIX1
2 branchiooculofacial syndrome 30.8 EYA1 SIX5
3 hemifacial microsomia 30.4 HOXA2 OTX2 SALL1
4 renal hypodysplasia/aplasia 1 29.7 EYA1 HOXA2 PAX2 SALL1 SIX5
5 branchiootorenal syndrome 2 12.4
6 branchiootic syndrome 1 11.2
7 branchiootic syndrome 3 11.1
8 branchiootorenal/branchiootic syndrome 11.1
9 fraser syndrome 1 10.7
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
11 otofaciocervical syndrome 1 10.3
12 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
13 orthostatic intolerance 10.3
14 sensorineural hearing loss 10.3
15 cholesteatoma of middle ear 10.3
16 renal osteodystrophy 10.3
17 epilepsy 10.3
18 optic nerve disease 10.3
19 dermoid cyst 10.3
20 neuropathy 10.3
21 trichorhinophalangeal syndrome 10.3
22 hypoaldosteronism 10.3
23 congenital gerbode defect 10.3
24 deafness, autosomal dominant 23 10.2 EYA1 SIX1
25 holoprosencephaly 2 10.2 SIX1 SIX6
26 papillorenal syndrome 10.1 EYA1 PAX2
27 duane retraction syndrome 1 10.1
28 preauricular fistulae, congenital 10.1
29 renal hypoplasia 10.1 EYA1 PAX2
30 lacrimal duct obstruction 10.1 EYA1 SIX1 SIX5
31 congenital aphakia 10.1 OTX2 PAX2
32 townes-brocks syndrome 10.0 EYA1 SALL1
33 cakut 10.0 EYA1 PAX2
34 renal hypodysplasia/aplasia 3 10.0
35 hydrocephalus 10.0
36 charge syndrome 9.9 OTX2 PAX2
37 cleft soft palate 9.9 HOXA2 TAP1
38 branchiootic syndrome 9.9 EYA1 SIX1 SIX5 SIX6
39 oligomeganephronia 9.9 PAX2 SIX5 TAP1
40 coloboma of macula 9.9 HOXA2 OTX2 PAX2
41 renal dysplasia 9.8 PAX2 SALL1
42 microphthalmia 9.7 OTX2 PAX2 SALL1 SIX6
43 deafness, autosomal dominant 10 9.6 EYA1 EYA4 PAX2 SIX1 SIX5

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



Diseases related to Branchiootorenal Syndrome

Symptoms & Phenotypes for Branchiootorenal Syndrome

Human phenotypes related to Branchiootorenal Syndrome:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 external ear malformation 60 33 frequent (33%) Frequent (79-30%) HP:0008572
3 renal hypoplasia/aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008678
4 preauricular skin tag 60 33 frequent (33%) Frequent (79-30%) HP:0000384
5 enlarged cochlear aqueduct 60 33 frequent (33%) Frequent (79-30%) HP:0011388
6 stenosis of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000402
7 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413
8 abnormality of the middle ear ossicles 60 33 frequent (33%) Frequent (79-30%) HP:0004452
9 hypoplasia of the cochlea 60 33 frequent (33%) Frequent (79-30%) HP:0008586
10 branchial cyst 60 33 frequent (33%) Frequent (79-30%) HP:0009796
11 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
12 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
13 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
14 retrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000278
15 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
16 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
17 ureteropelvic junction obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000074
18 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
19 abnormal lacrimal duct morphology 33 occasional (7.5%) HP:0011481
20 abnormality of the lacrimal duct 60 Occasional (29-5%)

GenomeRNAi Phenotypes related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.92 EYA1 OTX2 SIX1
2 Increased Nanog expression GR00371-A-5 8.92 EYA1

MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
2 embryo MP:0005380 10.06 EYA1 EYA4 HOXA2 HS6ST1 OTX2 PAX2
3 cellular MP:0005384 10.05 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
4 endocrine/exocrine gland MP:0005379 10.03 EYA1 EYA4 HS6ST1 OTX2 PAX2 SIX1
5 mortality/aging MP:0010768 10.02 EYA1 EYA4 HOXA2 HS6ST1 OTX2 PAX2
6 digestive/alimentary MP:0005381 9.95 EYA1 EYA4 HOXA2 OTX2 SALL1 SIX1
7 hearing/vestibular/ear MP:0005377 9.95 EYA1 EYA4 HOXA2 OTX2 PAX2 SALL1
8 craniofacial MP:0005382 9.89 EYA1 EYA4 HOXA2 OTX2 SIX1
9 nervous system MP:0003631 9.86 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
10 muscle MP:0005369 9.72 EYA1 HOXA2 OTX2 SIX1 SIX5
11 respiratory system MP:0005388 9.55 EYA1 HOXA2 HS6ST1 OTX2 SIX1
12 skeleton MP:0005390 9.43 EYA1 HOXA2 HS6ST1 OTX2 SALL1 SIX1
13 vision/eye MP:0005391 9.17 EYA1 HS6ST1 OTX2 PAX2 SIX1 SIX5

Drugs & Therapeutics for Branchiootorenal Syndrome

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome

Cochrane evidence based reviews: branchio-oto-renal syndrome

Genetic Tests for Branchiootorenal Syndrome

Anatomical Context for Branchiootorenal Syndrome

MalaCards organs/tissues related to Branchiootorenal Syndrome:

42
Kidney, Skin, Bone, Testes, Eye

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

(show top 50) (show all 112)
# Title Authors Year
1
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. ( 30908667 )
2019
2
Branchiootorenal syndrome: A case report. ( 29676348 )
2018
3
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. ( 29500469 )
2018
4
A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome. ( 29552445 )
2018
5
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. ( 30086703 )
2018
6
Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging. ( 30262375 )
2018
7
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. ( 30385470 )
2018
8
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )
2017
9
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072 )
2017
10
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505 )
2017
11
Anesthetic management of a patient with branchio-oto-renal syndrome. ( 29090252 )
2017
12
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. ( 26869444 )
2016
13
Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome. ( 28289595 )
2016
14
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. ( 26227013 )
2015
15
Branchiootorenal syndrome with skeletal defects: a novel association in a Mexican child. ( 25380322 )
2014
16
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701 )
2014
17
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. ( 25135225 )
2014
18
Branchio-oto-renal syndrome. ( 24848399 )
2014
19
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review. ( 25992067 )
2014
20
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. ( 23506628 )
2013
21
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. ( 23851940 )
2013
22
A different type of branchial fistula as part of a branchiootorenal syndrome. ( 22325402 )
2012
23
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. ( 22447252 )
2012
24
Branchio-oto-renal syndrome with obstructive sleep apnoea. ( 22891008 )
2012
25
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. ( 21280147 )
2011
26
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869 )
2011
27
Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. ( 21868107 )
2011
28
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260 )
2010
29
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917 )
2010
30
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527 )
2010
31
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191 )
2010
32
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. ( 19667416 )
2009
33
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155 )
2009
34
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. ( 19389353 )
2009
35
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856 )
2009
36
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. ( 19302870 )
2009
37
Additional temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. ( 19213038 )
2009
38
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. ( 18666230 )
2008
39
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911 )
2008
40
Branchio-oto-renal syndrome. ( 19263692 )
2008
41
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ( 18220287 )
2008
42
Branchio-oto-renal syndrome. ( 17238186 )
2007
43
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085 )
2007
44
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623 )
2007
45
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. ( 17364338 )
2007
46
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. ( 17637804 )
2007
47
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. ( 17184439 )
2007
48
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. ( 23120453 )
2007
49
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499 )
2006
50
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546 )
2006

Variations for Branchiootorenal Syndrome

Copy number variations for Branchiootorenal Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 242443 8 72305679 72332204 Deletion EYA1 Branchiootorenal syndrome

Expression for Branchiootorenal Syndrome

Search GEO for disease gene expression data for Branchiootorenal Syndrome.

Pathways for Branchiootorenal Syndrome

GO Terms for Branchiootorenal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.61 EYA1 EYA4 HOXA2 OTX2 PAX2 SALL1
2 protein-DNA complex GO:0032993 9.16 EYA1 PAX2
3 transcription factor complex GO:0005667 8.8 SIX1 SIX5 SIX6

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.98 HOXA2 OTX2 PAX2 SALL1 SIX1 SIX5
2 positive regulation of transcription, DNA-templated GO:0045893 9.97 EYA1 OTX2 PAX2 SALL1 SIX1
3 negative regulation of transcription, DNA-templated GO:0045892 9.91 PAX2 SALL1 SIX1 SIX5 SIX6
4 visual perception GO:0007601 9.82 EYA4 PAX2 SIX6
5 sensory perception of sound GO:0007605 9.79 EYA1 EYA4 SIX1
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
7 pattern specification process GO:0007389 9.71 EYA1 HOXA2 SIX1
8 inner ear morphogenesis GO:0042472 9.7 EYA1 PAX2 SIX1
9 cell fate commitment GO:0045165 9.67 EYA1 HOXA2
10 positive regulation of epithelial cell proliferation GO:0050679 9.66 EYA1 PAX2
11 inner ear development GO:0048839 9.66 EYA4 SIX1
12 outflow tract morphogenesis GO:0003151 9.65 EYA1 SIX1
13 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.65 EYA1 EYA4
14 positive regulation of DNA repair GO:0045739 9.65 EYA1 EYA4
15 embryonic skeletal system morphogenesis GO:0048704 9.65 EYA1 HOXA2 SIX1
16 regulation of neuron differentiation GO:0045664 9.64 EYA1 SIX1
17 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 PAX2 SIX1
18 cell fate determination GO:0001709 9.63 HOXA2 PAX2
19 pharyngeal system development GO:0060037 9.62 EYA1 SIX1
20 neuron fate specification GO:0048665 9.61 EYA1 SIX1
21 aorta morphogenesis GO:0035909 9.61 EYA1 SIX1
22 outer ear morphogenesis GO:0042473 9.6 EYA1 SALL1
23 metanephric mesenchyme development GO:0072075 9.59 PAX2 SIX1
24 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.58 PAX2 SALL1
25 otic vesicle development GO:0071599 9.58 EYA1 SIX1
26 ureteric bud development GO:0001657 9.58 EYA1 SALL1 SIX1
27 branching involved in ureteric bud morphogenesis GO:0001658 9.56 EYA1 PAX2 SALL1 SIX1
28 multicellular organism development GO:0007275 9.56 EYA1 EYA4 HOXA2 OTX2 PAX2 SIX1
29 histone dephosphorylation GO:0016576 9.55 EYA1 EYA4
30 cochlea morphogenesis GO:0090103 9.54 EYA1 PAX2 SIX1
31 middle ear morphogenesis GO:0042474 9.5 EYA1 HOXA2 SIX1
32 mesodermal cell fate specification GO:0007501 9.49 EYA1 PAX2
33 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.46 EYA1 SIX1
34 transcription by RNA polymerase II GO:0006366 9.26 PAX2
35 anatomical structure development GO:0048856 9.02 EYA1 EYA4 SIX1 SIX5 SIX6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 HOXA2 OTX2 PAX2 SALL1 SIX1 SIX5
2 sequence-specific DNA binding GO:0043565 9.62 HOXA2 OTX2 SIX1 SIX5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.35 HOXA2 OTX2 SALL1 SIX1 SIX5
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.33 SIX1 SIX5 SIX6
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 HOXA2 OTX2 PAX2 SALL1 SIX1 SIX5

Sources for Branchiootorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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