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 53 59 15
Branchio-Oto-Renal Syndrome 12 76 37 44 73
Bor Syndrome 53 59 55
Branchiootorenal Dysplasia 12 53
Melnick-Fraser Syndrome 12 53
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 53

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
MeSH 44 D019280
NCIt 50 C98983
SNOMED-CT 68 290006
Orphanet 59 ORPHA107
MESH via Orphanet 45 D019280
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C0265234
KEGG 37 H00453
UMLS 73 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 branchiooculofacial syndrome. An important gene associated with Branchiootorenal Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, skin and bone, and related phenotypes are facial palsy and hearing impairment

Wikipedia : 76 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 41)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1 33.9 EYA1 SIX1
2 branchiooculofacial syndrome 30.7 EYA1 SIX5
3 hemifacial microsomia 30.5 HOXA2 OTX2 SALL1
4 renal hypodysplasia/aplasia 1 30.0 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 11.0
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 renal osteodystrophy 10.3
16 optic nerve disease 10.3
17 dermoid cyst 10.3
18 neuropathy 10.3
19 trichorhinophalangeal syndrome 10.3
20 hypoaldosteronism 10.3
21 hyporeninemic hypoaldosteronism 10.3
22 deafness, autosomal dominant 23 10.2 EYA1 SIX1
23 holoprosencephaly 2 10.1 SIX1 SIX6
24 duane retraction syndrome 1 10.1
25 preauricular fistulae, congenital 10.1
26 papillorenal syndrome 10.1 EYA1 PAX2
27 renal hypoplasia 10.1 EYA1 PAX2
28 lacrimal duct obstruction 10.1 EYA1 SIX1 SIX5
29 congenital aphakia 10.1 OTX2 PAX2
30 townes-brocks syndrome 10.0 EYA1 SALL1
31 cakut 10.0 EYA1 PAX2
32 charge syndrome 10.0 OTX2 PAX2
33 renal hypodysplasia/aplasia 3 10.0
34 hydrocephalus 10.0
35 cleft soft palate 10.0 HOXA2 TAP1
36 branchiootic syndrome 9.9 EYA1 SIX1 SIX5 SIX6
37 oligomeganephronia 9.9 PAX2 SIX5 TAP1
38 coloboma of macula 9.9 HOXA2 OTX2 PAX2
39 renal dysplasia 9.9 PAX2 SALL1
40 microphthalmia 9.8 OTX2 PAX2 SALL1 SIX6
41 deafness, autosomal dominant 10 9.7 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:

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

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

26
# 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 (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:

41
Kidney, Skin, Bone, Testes, Eye

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

(show top 50) (show all 111)
# Title Authors Year
1
Branchiootorenal syndrome: A case report. ( 29676348 )
2018
2
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. ( 29500469 )
2018
3
A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome. ( 29552445 )
2018
4
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. ( 30086703 )
2018
5
Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging. ( 30262375 )
2018
6
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. ( 30385470 )
2018
7
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )
2017
8
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072 )
2017
9
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505 )
2017
10
Anesthetic management of a patient with branchio-oto-renal syndrome. ( 29090252 )
2017
11
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. ( 26869444 )
2016
12
Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome. ( 28289595 )
2016
13
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. ( 26227013 )
2015
14
Branchiootorenal syndrome with skeletal defects: a novel association in a Mexican child. ( 25380322 )
2014
15
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701 )
2014
16
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. ( 25135225 )
2014
17
Branchio-oto-renal syndrome. ( 24848399 )
2014
18
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review. ( 25992067 )
2014
19
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. ( 23506628 )
2013
20
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. ( 23851940 )
2013
21
A different type of branchial fistula as part of a branchiootorenal syndrome. ( 22325402 )
2012
22
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. ( 22447252 )
2012
23
Branchio-oto-renal syndrome with obstructive sleep apnoea. ( 22891008 )
2012
24
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
25
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869 )
2011
26
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
27
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260 )
2010
28
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917 )
2010
29
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527 )
2010
30
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191 )
2010
31
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. ( 19667416 )
2009
32
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155 )
2009
33
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. ( 19389353 )
2009
34
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856 )
2009
35
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. ( 19302870 )
2009
36
Additional temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. ( 19213038 )
2009
37
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. ( 18666230 )
2008
38
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911 )
2008
39
Branchio-oto-renal syndrome. ( 19263692 )
2008
40
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ( 18220287 )
2008
41
Branchio-oto-renal syndrome. ( 17238186 )
2007
42
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085 )
2007
43
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623 )
2007
44
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. ( 17364338 )
2007
45
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
46
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. ( 17184439 )
2007
47
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. ( 23120453 )
2007
48
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499 )
2006
49
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546 )
2006
50
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. ( 15802522 )
2005

Variations for Branchiootorenal Syndrome

ClinVar genetic disease variations for Branchiootorenal Syndrome:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh37 Chromosome 8, 72184037: 72184037
2 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh38 Chromosome 8, 71271802: 71271802
3 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC indel Pathogenic
4 EYA1 EYA1, ALU INS, EX10 insertion Pathogenic
5 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
6 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh37 Chromosome 8, 72123391: 72123394
7 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
8 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh38 Chromosome 8, 71216733: 71216733
9 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh37 Chromosome 8, 72129011: 72129011
10 EYA1 NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121909199 GRCh38 Chromosome 8, 71216776: 71216776
11 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
12 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
13 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh38 Chromosome 8, 71215630: 71215630
14 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
15 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh38 Chromosome 8, 71215470: 71215470
16 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
17 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
18 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
19 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh37 Chromosome 8, 72183988: 72183988
20 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
21 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh38 Chromosome 14, 60648804: 60648804
22 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh38 Chromosome 8, 71215729: 71215729
23 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh37 Chromosome 8, 72127640: 72127640
24 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh38 Chromosome 8, 71215405: 71215405
25 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
26 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh38 Chromosome 8, 71211156: 71211157
27 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
28 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh38 Chromosome 8, 71244621: 71244621
29 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
30 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh37 Chromosome 8, 72111606: 72111606
31 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh38 Chromosome 8, 71199371: 71199371
32 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
33 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh38 Chromosome 14, 60648873: 60648873
34 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
35 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh38 Chromosome 14, 60648856: 60648856
36 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
37 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh38 Chromosome 14, 60649140: 60649140
38 EYA1 NM_172058.2(EYA1): c.(?_-66)_(*76_?)del deletion Pathogenic GRCh37 Chromosome 8, 72111499: 72268758
39 EYA1 NM_172058.2(EYA1): c.(?_-66)_(*76_?)del deletion Pathogenic GRCh38 Chromosome 8, 71199264: 71356523
40 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
41 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh38 Chromosome 8, 71215613: 71215613
42 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
43 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
44 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh38 Chromosome 8, 71317680: 71317680
45 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh37 Chromosome 8, 72229915: 72229915
46 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh38 Chromosome 8, 71334135: 71334135
47 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh37 Chromosome 8, 72246370: 72246370
48 EYA1 NM_000503.5(EYA1): c.671G> T (p.Gly224Val) single nucleotide variant Uncertain significance rs201509408 GRCh38 Chromosome 8, 71299202: 71299202
49 EYA1 NM_000503.5(EYA1): c.671G> T (p.Gly224Val) single nucleotide variant Uncertain significance rs201509408 GRCh37 Chromosome 8, 72211437: 72211437
50 EYA1 NM_000503.5(EYA1): c.403G> A (p.Gly135Ser) single nucleotide variant Uncertain significance rs747476629 GRCh37 Chromosome 8, 72233984: 72233984

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 34)
# 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 transcription by RNA polymerase II GO:0006366 9.96 OTX2 PAX2 SIX1 SIX5 SIX6
4 negative regulation of transcription, DNA-templated GO:0045892 9.91 PAX2 SALL1 SIX1 SIX5 SIX6
5 visual perception GO:0007601 9.82 EYA4 PAX2 SIX6
6 sensory perception of sound GO:0007605 9.79 EYA1 EYA4 SIX1
7 positive regulation of transcription by RNA polymerase II GO:0045944 9.76 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
8 pattern specification process GO:0007389 9.71 EYA1 HOXA2 SIX1
9 inner ear morphogenesis GO:0042472 9.7 EYA1 PAX2 SIX1
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 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 9.87 HOXA2 OTX2 PAX2 SALL1 SIX1 SIX5
2 sequence-specific DNA binding GO:0043565 9.67 HOXA2 OTX2 SIX1 SIX5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 HOXA2 OTX2 SALL1 SIX1 SIX5
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 HOXA2 OTX2 PAX2 SALL1 SIX1 SIX5
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 SIX1 SIX5 SIX6
6 distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001205 8.8 SIX1 SIX5 SIX6

Sources for Branchiootorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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