MCID: BRN006
MIFTS: 44

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 53 59 15
Branchio-Oto-Renal Syndrome 12 75 37 44 72
Bor Syndrome 53 59 55
Branchiootorenal Dysplasia 12 53
Melnick-Fraser Syndrome 12 53
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 53
Branchiootorenal Syndrome 29

Characteristics:

Orphanet epidemiological data:

59
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 37 H00453
MeSH 44 D019280
NCIt 50 C98983
SNOMED-CT 68 290006
MESH via Orphanet 45 D019280
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0265234
Orphanet 59 ORPHA107
UMLS 72 C0265234

Summaries for Branchiootorenal Syndrome

NIH Rare Diseases : 53 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 cakut. An important gene associated with Branchiootorenal Syndrome is SIX5 (SIX Homeobox 5). Affiliated tissues include kidney, bone and eye, and related phenotypes are hearing impairment and external ear malformation

KEGG : 37
Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Indivisuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.

Wikipedia : 75 Branchio-oto-renal syndrome (BOR) , is an autosomal dominant genetic disorder involving the kidneys,... 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:

(showing 84, show less)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1 34.6 SIX1 EYA1
2 cakut 32.6 PAX2 EYA1
3 branchiooculofacial syndrome 31.3 SIX5 EYA1
4 renal hypoplasia 31.2 PAX2 EYA1
5 deafness, autosomal dominant 23 31.0 SIX1 EYA1
6 oligomeganephronia 30.6 TAP1 SIX5 PAX2
7 townes-brocks syndrome 30.6 SALL1 EYA1
8 renal dysplasia 30.4 SALL1 PAX2
9 branchiootic syndrome 29.9 SIX6 SIX5 SIX1 EYA1
10 hemifacial microsomia 29.9 SALL1 OTX2 HOXA2
11 renal hypodysplasia/aplasia 1 29.3 SIX5 SALL1 PAX2 HOXA2 EYA1
12 deafness, autosomal dominant 10 28.6 SIX5 SIX1 PAX2 EYA4 EYA1 DACH1
13 branchiootorenal syndrome 2 12.6
14 branchiootic syndrome 3 11.6
15 branchiootic syndrome 1 11.4
16 branchiootorenal/branchiootic syndrome 11.2
17 branchiootorenal spectrum disorder 10.9
18 fraser syndrome 1 10.7
19 ear malformation 10.6
20 branchial cleft anomalies 10.6
21 sensorineural hearing loss 10.6
22 end stage renal failure 10.5
23 branchial arch defects 10.5
24 cleft palate, isolated 10.4
25 cholesteatoma of middle ear 10.4
26 holoprosencephaly 2 10.3 SIX6 SIX1
27 kidney disease 10.3
28 townes-brocks syndrome 1 10.3
29 stickler syndrome, type i 10.3
30 gastroesophageal reflux 10.3
31 commissural lip pits 10.3
32 branchiootic syndrome 2 10.3
33 otitis media 10.3
34 otofaciocervical syndrome 1 10.3
35 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.3
36 orthostatic intolerance 10.3
37 patent ductus arteriosus 1 10.3
38 metabolic acidosis 10.3
39 spastic diplegia 10.3
40 alport syndrome 10.3
41 hydronephrosis 10.3
42 myopia 10.3
43 oligohydramnios 10.3
44 male infertility 10.3
45 patulous eustachian tube 10.3
46 renal osteodystrophy 10.3
47 facial paralysis 10.3
48 optic nerve disease 10.3
49 dermoid cyst 10.3
50 cystic teratoma 10.3
51 infertility 10.3
52 mature teratoma 10.3
53 cataract 10.3
54 neuropathy 10.3
55 nonsyndromic hearing loss and deafness, dfna3 10.3
56 pax2-related disorder 10.3
57 trichorhinophalangeal syndrome 10.3
58 hypoadrenalism 10.3
59 hypoaldosteronism 10.3
60 posttransplant acute limbic encephalitis 10.3
61 autosomal dominant non-syndromic sensorineural deafness type dfna 10.3
62 microtia 10.3
63 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
64 papillorenal syndrome 10.2 PAX2 EYA1
65 lacrimal duct obstruction 10.2 SIX5 SIX1 EYA1
66 congenital aphakia 10.1 PAX2 OTX2
67 duane retraction syndrome 1 10.1
68 retinitis pigmentosa 11 10.1
69 complex chromosomal rearrangement 10.1
70 hydrocephalus, autosomal dominant 10.0
71 endosteal hyperostosis, autosomal dominant 10.0
72 anus, imperforate 10.0
73 chromosome 8q12.1-q21.2 deletion syndrome 10.0
74 cholesteatoma, congenital 10.0
75 helix syndrome 10.0
76 hypospadias 10.0
77 hydrocephalus 10.0
78 potter's syndrome 10.0
79 microcephaly 10.0
80 congenital hydrocephalus 10.0
81 charge syndrome 9.9 PAX2 OTX2
82 cleft soft palate 9.7 TAP1 HOXA2
83 microphthalmia 9.5 SIX6 SALL1 PAX2 OTX2
84 coloboma of macula 9.5 PAX2 OTX2 HOXA2

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:

59 32 (showing 20, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
3 renal hypoplasia/aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008678
4 preauricular skin tag 59 32 frequent (33%) Frequent (79-30%) HP:0000384
5 enlarged cochlear aqueduct 59 32 frequent (33%) Frequent (79-30%) HP:0011388
6 stenosis of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000402
7 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
8 abnormality of the middle ear ossicles 59 32 frequent (33%) Frequent (79-30%) HP:0004452
9 hypoplasia of the cochlea 59 32 frequent (33%) Frequent (79-30%) HP:0008586
10 branchial cyst 59 32 frequent (33%) Frequent (79-30%) HP:0009796
11 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
12 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
13 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
14 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
15 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
16 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
17 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
18 ureteropelvic junction obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000074
19 abnormal lacrimal duct morphology 32 occasional (7.5%) HP:0011481
20 abnormality of the lacrimal duct 59 Occasional (29-5%)

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

26 (showing 2, show less)
# 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:

46 (showing 11, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 DACH1 EYA1 HOXA2 OTX2 PAX2 SALL1
2 endocrine/exocrine gland MP:0005379 10.01 DACH1 EYA1 EYA4 OTX2 PAX2 SIX1
3 embryo MP:0005380 9.98 EYA1 EYA4 HOXA2 OTX2 PAX2 SALL1
4 mortality/aging MP:0010768 9.97 DACH1 EYA1 EYA4 HOXA2 OTX2 PAX2
5 digestive/alimentary MP:0005381 9.93 EYA1 EYA4 HOXA2 OTX2 SALL1 SIX1
6 hearing/vestibular/ear MP:0005377 9.91 EYA1 EYA4 HOXA2 OTX2 PAX2 SALL1
7 craniofacial MP:0005382 9.88 EYA1 EYA4 HOXA2 OTX2 SIX1
8 nervous system MP:0003631 9.81 DACH1 EYA1 HOXA2 OTX2 PAX2 SALL1
9 muscle MP:0005369 9.65 EYA1 HOXA2 OTX2 SIX1 SIX5
10 respiratory system MP:0005388 9.35 DACH1 EYA1 HOXA2 OTX2 SIX1
11 vision/eye MP:0005391 9.1 EYA1 OTX2 PAX2 SIX1 SIX5 SIX6

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

Genetic tests related to Branchiootorenal Syndrome:

# Genetic test Affiliating Genes
1 Branchiootorenal (bor) Syndrome 29

Anatomical Context for Branchiootorenal Syndrome

MalaCards organs/tissues related to Branchiootorenal Syndrome:

41
Kidney, Bone, Eye, Skin, Testes, Salivary Gland, Smooth Muscle

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

(showing 194, show less)
# Title Authors PMID Year
1
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. 9 38 71
19206155 2009
2
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 9 38 71
9603436 1998
3
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. 38 71
21280147 2011
4
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 9 71
18177466 2008
5
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 38 71
17357085 2007
6
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 9 71
9361030 1997
7
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 38 71
10464653 1997
8
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 71
16691597 2006
9
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 71
10991693 2000
10
Branchiootorenal Spectrum Disorder 71
20301554 1999
11
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 71
9020840 1997
12
Familial hearing loss associated with branchial fistulas. 71
5365063 1969
13
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. 9 38
20130917 2010
14
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 9 38
19951260 2010
15
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 9 38
19497856 2009
16
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. 9 38
19389353 2009
17
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. 9 38
19215039 2009
18
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. 9 38
19667416 2009
19
Differential expression of Eya1 and Eya2 during chick early embryonic development. 9 38
18316249 2008
20
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 9 38
18330911 2008
21
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 9 38
18220287 2008
22
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 9 38
17637804 2007
23
Branchio-oto-renal syndrome. 9 38
17238186 2007
24
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. 9 38
17049623 2007
25
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. 9 38
17364338 2007
26
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 9 38
16971658 2006
27
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. 9 38
16797546 2006
28
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. 9 38
17419499 2006
29
Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. 9 38
15802522 2005
30
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. 9 38
15491396 2004
31
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 9 38
15492887 2004
32
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 9 38
15146463 2004
33
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 9 38
15141091 2004
34
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. 9 38
15684871 2004
35
Branchio-oto-renal syndrome. 9 38
14696767 2003
36
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 9 38
11950062 2002
37
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. 9 38
11465802 2001
38
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 9 38
10767004 2000
39
Branchio-oculo-facial syndrome: case report. 9 38
10418222 1999
40
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. 9 38
10429368 1999
41
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. 38
31384484 2019
42
[Research progress of congenital preauricular fistula]. 38
31163564 2019
43
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. 38
30908667 2019
44
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 38
30466636 2019
45
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 38
31379922 2019
46
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. 38
30385470 2018
47
Second branchial cleft anomalies in children: a literature review. 38
30251021 2018
48
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 38
30221713 2018
49
Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging. 38
30262375 2018
50
[Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome]. 38
30282165 2018
51
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. 38
30086703 2018
52
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. 38
29500469 2018
53
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics. 38
29441214 2018
54
A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome. 38
29552445 2018
55
Branchiootorenal syndrome: A case report. 38
29676348 2018
56
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. 38
29344072 2017
57
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. 38
28937080 2017
58
Anesthetic management of a patient with branchio-oto-renal syndrome. 38
29090252 2017
59
Novel EYA1 variants causing Branchio-oto-renal syndrome. 38
28583505 2017
60
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. 38
26869444 2016
61
Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome. 38
28289595 2016
62
Does canal wall down mastoidectomy benefit syndromic children with congenital aural stenosis? 38
27729133 2016
63
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis. 38
27542115 2016
64
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. 38
27240490 2016
65
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. 38
26227013 2015
66
The Eya1 phosphatase promotes Shh signaling during hindbrain development and oncogenesis. 38
25816987 2015
67
Branchiootorenal syndrome with skeletal defects: a novel association in a Mexican child. 38
25380322 2015
68
Branchiootorenal and branchiooculofacial syndrome. 38
25569411 2015
69
Cervical chondrocutaneous branchial remnants--report of 17 cases. 38
25234732 2014
70
Aneurysmal dilatation associated with arteriovenous fistula in a transplanted kidney after renal biopsies. 38
25074612 2014
71
16q12 microdeletion syndrome in two Japanese boys. 38
25336016 2014
72
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. 38
24933236 2014
73
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. 38
25135225 2014
74
Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome. 38
24590738 2014
75
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. 38
24730701 2014
76
Branchio-oto-renal syndrome. 38
24848399 2014
77
[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH]. 38
23868653 2014
78
[Misdiagnosis of branchio-oto-renal syndrome as preauricular fistula: report of two cases]. 38
24931024 2014
79
Hearing loss and enlarged internal auditory canal in children. 38
24534420 2014
80
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review. 38
25992067 2014
81
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. 38
23851940 2013
82
Mouse Hoxa2 mutations provide a model for microtia and auricle duplication. 38
24067355 2013
83
Coexisting first and bilateral second branchial fistulas in a child with nonfamilial branchio-otic syndrome. 38
23904306 2013
84
[Laryngoscopy and tracheal intubation with Airtraq in a pediatric patient with branchio-oto-renal syndrome]. 38
22854630 2013
85
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. 38
23506628 2013
86
Surgical aspects of cochlear implantation in syndromic children. 38
22334127 2012
87
Branchio-oto-renal syndrome with obstructive sleep apnoea. 38
22891008 2012
88
Regulation of Six1 expression by evolutionarily conserved enhancers in tetrapods. 38
22659139 2012
89
The second branchial cleft fistula. 38
22572408 2012
90
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. 38
22447252 2012
91
A different type of branchial fistula as part of a branchiootorenal syndrome. 38
22325402 2012
92
Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. 38
21868107 2011
93
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. 38
21955869 2011
94
First and second branchial arch syndromes: multimodality approach. 38
20924574 2011
95
Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. 38
20956555 2010
96
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. 38
20979191 2010
97
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. 38
20845527 2010
98
SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation. 9
20110314 2010
99
Additional temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. 38
19213038 2009
100
[A case report and literature review of branchio-oto-renal syndrome]. 38
19558847 2009
101
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. 38
19302870 2009
102
Branchio-oto-renal syndrome. 38
19263692 2008
103
Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear. 38
18678597 2008
104
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. 38
18666230 2008
105
Mapping of genetic modifiers of Eya1 ( bor/bor ) in CAST/EiJ and BALB/cJ that suppress cochlear aplasia and associated deafness. 38
18836772 2008
106
Eyes absent proteins: characterization of substrate specificity and phosphatase activity of mutants associated with branchial, otic and renal anomalies. 38
18759246 2008
107
Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. 38
18053235 2007
108
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. 38
23120453 2007
109
Congenital cervical cysts, sinuses and fistulae. 38
17346566 2007
110
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. 38
17184439 2007
111
Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations. 38
16830115 2006
112
Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. 9
16916509 2006
113
[Report of a case with branchio-oto-renal syndrome]. 38
17217671 2006
114
EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. 9
16491411 2006
115
Transplantation of infant en bloc kidneys into paediatric recipients. 38
16382315 2006
116
Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. 38
16222209 2005
117
Vestibular dilatation in branchio-oto-renal syndrome. 38
16213971 2005
118
Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. 9
16005355 2005
119
Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome. 38
23120126 2005
120
Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay. 38
15479196 2004
121
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome. 38
15726843 2004
122
Branchio-oto renal syndrome. 38
15080419 2004
123
Bilateral second branchial cleft cysts without any associated congenital abnormality: a case report. 38
15567933 2003
124
A natural allele of Nxf1 suppresses retrovirus insertional mutations. 38
14517553 2003
125
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. 38
12884440 2003
126
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. 9
12404110 2002
127
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. 38
12220207 2002
128
A family with the branchio-oto-renal syndrome: clinical and genetic correlations. 38
12032190 2002
129
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. 38
11875350 2002
130
Ossicular chain dystopia and dilation of vestibules in branchio-oto-renal syndrome: a new phenotypic association? 38
11870359 2002
131
The branchio-oto-renal syndrome. 38
12408084 2002
132
Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. 9
11734542 2001
133
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. 38
11568672 2001
134
Syndromic ear anomalies and renal ultrasounds. 38
11483842 2001
135
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. 38
11397497 2001
136
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. 9
11409867 2001
137
A family affected by branchio-oto syndrome with EYA1 mutations. 9
11683347 2001
138
[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. 38
11434182 2001
139
Branchio-Oto-renal syndrome: a report on nine family groups. 38
11228174 2001
140
[Branchio-oto-renal syndrome (BOR syndrome). A dysplasia syndrome with branchial abnormalities, deafness and kidney disease]. 38
11139890 2000
141
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. 38
10928856 2000
142
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 38
10762556 2000
143
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 9
10655545 2000
144
Branchio-Oto-Renal syndrome. 38
10868212 2000
145
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 9
10471511 1999
146
Bilateral congenital cholesteatoma in branchio-oto-renal syndrome. 38
10664690 1999
147
The zebrafish eya1 gene and its expression pattern during embryogenesis. 38
10370123 1999
148
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. 9
10072433 1999
149
Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. 9
10077726 1999
150
Genetic heterogeneity associated with branchio-oto-renal syndrome. 38
10096598 1999
151
Branchio-oto-renal syndrome with generalized microdontia: case report. 38
10052373 1999
152
Branchio-oto-renal syndrome. 38
9777487 1998
153
Renal failure and deafness: branchio-oto-renal syndrome. 38
9708623 1998
154
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. 38
9556298 1998
155
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). 38
9557405 1998
156
Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. 38
9450857 1998
157
Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome. 38
9890002 1998
158
What syndrome is this? Branchio-oto-renal syndrome. 38
8987064 1996
159
[Case of branchio-oto-renal syndrome]. 38
8926478 1996
160
The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. 38
8661098 1996
161
Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome. 38
8786145 1996
162
[Malformation processes in the middle ear. Branchio-oto-renal syndrome (BOR)]. 38
8928671 1996
163
Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene. 38
8824802 1996
164
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. 38
8558563 1995
165
Phenotypic manifestations of branchio-oto-renal syndrome. 38
8533848 1995
166
Branchio-oto-renal syndrome. 38
7619422 1995
167
[Branchio-oto-renal syndrome. 4 cases in three families]. 38
7638114 1995
168
Branchio-oto-renal syndrome. 38
7696673 1995
169
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. 38
7977379 1994
170
Renal cell carcinoma developing in the pediatric recipient of an adult cadaveric donor kidney. 38
7819010 1994
171
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. 38
8092199 1994
172
Branchio-oculo-facial syndrome: broadening the spectrum. 38
8160736 1994
173
Branchio-oto-renal syndrome: incidence in three generations of a family. 38
8301480 1993
174
Localization of the gene for branchiootorenal syndrome to chromosome 8q. 38
1478663 1992
175
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. 38
1307249 1992
176
Association of preauricular sinuses and renal anomalies. 38
1523751 1992
177
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. 38
1415348 1992
178
Shoulder abnormalities in association with branchio-oto-renal dysplasia in a patient who also has familial joint laxity. 38
1592563 1992
179
Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome. 38
1746829 1991
180
Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). 38
2070534 1991
181
The search for branchiootorenal syndrome on chromosomes 1 and 8. 38
1952608 1991
182
Clinical quiz. Branchio-oto-renal syndrome. 38
2702119 1989
183
Autosomal dominant inheritance of small kidneys. 38
2650546 1989
184
The branchio-oto-renal syndrome (report of two family groups). 38
3346591 1988
185
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. 38
3605200 1987
186
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. 38
3799714 1986
187
Gustatory lacrimation in association with the branchio-oto-renal syndrome. 38
4006277 1985
188
Hemifacial microsomia and the branchio-oto-renal syndrome. 38
3877103 1985
189
Clinical aspects of the branchio-oto-renal syndrome. 38
6435070 1984
190
Anaphylaxis during hemodialysis. 38
6715114 1984
191
Renal disorders in the branchio-oto-renal syndrome. 38
6668201 1983
192
Glomerular lesions in the branchio-oto-renal (BOR) syndrome. 38
7107121 1982
193
The branchio-oto-renal syndrome. 38
7180911 1982
194
[Branchio-oto-renal malformation syndrome (author's transl)]. 38
533091 1979

Variations for Branchiootorenal Syndrome

Copy number variations for Branchiootorenal Syndrome from CNVD:

7 (showing 1, show less)
# 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:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.65 SIX6 SIX5 SIX1 SALL1 PAX2 OTX2
2 protein-DNA complex GO:0032993 9.16 PAX2 EYA1
3 transcription factor complex GO:0005667 8.92 SIX6 SIX5 SIX1 DACH1

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

(showing 36, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 SIX1 SALL1 PAX2 OTX2 EYA1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.96 SIX1 SALL1 HOXA2 DACH1
3 regulation of transcription, DNA-templated GO:0006355 9.92 SIX6 SIX5 SIX1 SALL1 PAX2 OTX2
4 negative regulation of transcription, DNA-templated GO:0045892 9.85 SIX6 SIX5 SIX1 SALL1 PAX2 DACH1
5 visual perception GO:0007601 9.82 SIX6 PAX2 EYA4
6 sensory perception of sound GO:0007605 9.79 SIX1 EYA4 EYA1
7 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 SIX6 SIX5 SIX1 SALL1 PAX2 OTX2
8 pattern specification process GO:0007389 9.71 SIX1 HOXA2 EYA1
9 inner ear morphogenesis GO:0042472 9.7 SIX1 PAX2 EYA1
10 cell fate commitment GO:0045165 9.67 HOXA2 EYA1
11 positive regulation of epithelial cell proliferation GO:0050679 9.67 PAX2 EYA1
12 embryonic skeletal system morphogenesis GO:0048704 9.67 SIX1 HOXA2 EYA1
13 outflow tract morphogenesis GO:0003151 9.66 SIX1 EYA1
14 inner ear development GO:0048839 9.65 SIX1 EYA4
15 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.65 EYA4 EYA1
16 positive regulation of DNA repair GO:0045739 9.65 EYA4 EYA1
17 regulation of neuron differentiation GO:0045664 9.64 SIX1 EYA1
18 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 SIX1 PAX2
19 pharyngeal system development GO:0060037 9.63 SIX1 EYA1
20 ureteric bud development GO:0001657 9.63 SIX1 SALL1 EYA1
21 cell fate determination GO:0001709 9.62 PAX2 HOXA2
22 neuron fate specification GO:0048665 9.61 SIX1 EYA1
23 aorta morphogenesis GO:0035909 9.61 SIX1 EYA1
24 cochlea morphogenesis GO:0090103 9.61 SIX1 PAX2 EYA1
25 multicellular organism development GO:0007275 9.61 SIX6 SIX5 SIX1 PAX2 OTX2 HOXA2
26 outer ear morphogenesis GO:0042473 9.6 SALL1 EYA1
27 metanephric mesenchyme development GO:0072075 9.59 SIX1 PAX2
28 otic vesicle development GO:0071599 9.58 SIX1 EYA1
29 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.58 SALL1 PAX2
30 middle ear morphogenesis GO:0042474 9.58 SIX1 HOXA2 EYA1
31 branching involved in ureteric bud morphogenesis GO:0001658 9.56 SIX1 SALL1 PAX2 EYA1
32 histone dephosphorylation GO:0016576 9.55 EYA4 EYA1
33 mesodermal cell fate specification GO:0007501 9.51 PAX2 EYA1
34 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.48 SIX1 EYA1
35 transcription by RNA polymerase II GO:0006366 9.26 PAX2
36 anatomical structure development GO:0048856 9.02 SIX6 SIX5 SIX1 EYA4 EYA1

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.72 SIX1 SALL1 OTX2 HOXA2 DACH1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 SIX6 SIX5 SIX1 SALL1 PAX2 OTX2
3 sequence-specific DNA binding GO:0043565 9.67 SIX5 SIX1 OTX2 HOXA2
4 DNA binding GO:0003677 9.56 SIX6 SIX5 SIX1 SALL1 PAX2 OTX2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 SIX6 SIX5 SIX1
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.1 SIX5 SIX1 SALL1 OTX2 HOXA2 DACH1

Sources for Branchiootorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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