BOR
MCID: BRN006
MIFTS: 57

Branchiootorenal Syndrome (BOR)

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

MalaCards integrated aliases for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 11 19 42 58 14 38
Branchio-Oto-Renal Syndrome 11 42 75 5 43 71
Bor Syndrome 19 42 58 53
Branchiootorenal Spectrum Disorders 42 28 5
Branchiootorenal Dysplasia 11 19 42
Melnick-Fraser Syndrome 11 19 42
Branchio-Otorenal Dysplasia 11 42
Branchiootorenal/branchiootic Syndrome 42
Branchio Oto Renal Syndrome 19
Branchiootorenal Syndrome 28
Branchio-Otorenal Syndrome 42
Branchiootic Syndrome 1 71
Branchiootic Syndrome 42
Bo Syndrome 42
Bos 42
Bor 42

Characteristics:


Inheritance:

Bor Syndrome: Autosomal dominant 58

Prevelance:

Bor Syndrome: 1-9/100000 (Canada, Worldwide) 58

Age Of Onset:

Bor Syndrome: Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:14702
MeSH 43 D019280
NCIt 49 C98983
SNOMED-CT 68 290006
MESH via Orphanet 44 D019280
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C0265234
Orphanet 58 ORPHA107
UMLS 71 C0265234 C1865143

Summaries for Branchiootorenal Syndrome

MedlinePlus Genetics: 42 Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders)."Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically."Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively."Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.

MalaCards based summary: Branchiootorenal Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome 1 and branchiootic syndrome 1. An important gene associated with Branchiootorenal Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways are DNA Double Strand Break Response and Genes controlling nephrogenesis. Affiliated tissues include tonsil, kidney and bone, and related phenotypes are hearing impairment and external ear malformation

Orphanet: 58 A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

GARD: 19 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 genetic changes in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion.

Disease Ontology: 11 A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.

Wikipedia: 75 Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears,... 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 top 50) (show all 393)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1 32.9 TJP2 TFAP2A-AS1 TFAP2A SIX1 EYA1
2 branchiootic syndrome 1 32.4 SIX1 EYA1
3 cakut 32.2 SIX5 SIX2 SIX1 SALL1 ROBO2 PAX2
4 fraser syndrome 1 31.3 TFAP2A SIX1 EYA1
5 patulous eustachian tube 30.8 SIX5 SIX1 EYA1
6 rare genetic deafness 30.8 SLC26A4 GJB2 EYA4 EYA1
7 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 30.6 SLC26A4 SIX5 GJB2 EYA1
8 townes-brocks syndrome 30.5 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
9 deafness, autosomal dominant 10 30.3 SIX5 SIX1 EYA4 EYA3 EYA2 EYA1
10 oligomeganephronia 30.2 SALL1 PAX2 EYA1
11 renal hypoplasia 30.2 SIX5 SIX2 SIX1 SALL1 ROBO2 PAX2
12 renal hypodysplasia/aplasia 1 30.2 SIX5 SIX2 SIX1 SALL1 ROBO2 PAX2
13 branchiooculofacial syndrome 30.2 TFAP2A-AS1 TFAP2A SALL1 EYA1
14 craniofacial microsomia 30.0 SALL1 HOXA2
15 sensorineural hearing loss 29.8 SLC26A4 PAX2 GJB2 EYA4 EYA1
16 branchiootic syndrome 29.8 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
17 buschke-ollendorff syndrome 11.7
18 branchiootorenal syndrome 2 11.7
19 bohring-opitz syndrome 11.4
20 cow milk allergy 11.3
21 klhl7-related bohring-opitz-like syndrome 11.3
22 chromosome 8q12.1-q21.2 deletion syndrome 11.2
23 branchiootic syndrome 3 11.1
24 melorheostosis, isolated 10.9
25 klhl7-related disorder 10.9
26 bronchiolitis obliterans 10.5
27 bronchiolitis 10.5
28 branchial cleft anomalies 10.5
29 chronic kidney disease 10.5
30 eustachian tube disease 10.4 SIX5 EYA1
31 brucellosis 10.4
32 end stage renal disease 10.4
33 bilateral renal aplasia 10.4 PAX2 EYA1
34 lacrimal duct obstruction 10.4 TFAP2A SIX5 EYA1
35 mastitis 10.4
36 henoch-schoenlein purpura 10.4
37 tick infestation 10.4
38 orofacial cleft 1 10.4 TFAP2A EYA1
39 cochlear disease 10.4 SLC26A4 GJB2
40 theileriasis 10.3
41 y-linked deafness 10.3 SLC26A4 GJB2
42 superior semicircular canal dehiscence 10.3 SLC26A4 EYA4
43 deafness, autosomal dominant 6 10.3 SLC26A4 GJB2
44 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 10.3 SIX2 SIX1 PAX2
45 ureterocele 10.3 ROBO2 PAX2
46 deafness, autosomal dominant 56 10.3 SLC26A4 GJB2
47 deafness, autosomal dominant 2b 10.3 SLC26A4 GJB2
48 mouth disease 10.3
49 bardet-biedl syndrome 8 10.3 SIX6 SIX4
50 cleft palate, isolated 10.3

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:

58 30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
2 external ear malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008572
3 renal hypoplasia/aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008678
4 preauricular skin tag 58 30 Frequent (33%) Frequent (79-30%)
HP:0000384
5 enlarged cochlear aqueduct 58 30 Frequent (33%) Frequent (79-30%)
HP:0011388
6 stenosis of the external auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0000402
7 atresia of the external auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0000413
8 abnormality of the middle ear ossicles 58 30 Frequent (33%) Frequent (79-30%)
HP:0004452
9 hypoplasia of the cochlea 58 30 Frequent (33%) Frequent (79-30%)
HP:0008586
10 branchial cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0009796
11 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
12 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
13 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
14 retrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000278
15 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
16 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
17 multicystic kidney dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000003
18 abnormal lacrimal duct morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011481
19 ureteropelvic junction obstruction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000074

MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 EYA1 EYA2 EYA3 EYA4 GJB2 HOXA2
2 nervous system MP:0003631 10.34 DACH1 EYA1 GJB2 HOXA2 PAX2 ROBO2
3 hearing/vestibular/ear MP:0005377 10.3 EYA1 EYA2 EYA3 EYA4 GJB2 HOXA2
4 endocrine/exocrine gland MP:0005379 10.24 DACH1 EYA1 EYA2 EYA4 PAX2 SIX1
5 embryo MP:0005380 10.22 EYA1 EYA4 GJB2 HOXA2 PAX2 ROBO2
6 cellular MP:0005384 10.22 DACH1 EYA1 EYA4 GJB2 HOXA2 PAX2
7 normal MP:0002873 10.17 EYA1 GJB2 HOXA2 ROBO2 SALL1 SIX2
8 digestive/alimentary MP:0005381 10.16 EYA1 EYA4 HOXA2 ROBO2 SALL1 SIX1
9 renal/urinary system MP:0005367 10.15 EYA1 EYA3 PAX2 ROBO2 SALL1 SIX1
10 muscle MP:0005369 10.14 EYA1 HOXA2 ROBO2 SIX1 SIX4 SIX5
11 behavior/neurological MP:0005386 10.13 DACH1 EYA1 EYA2 EYA3 HOXA2 ROBO2
12 cardiovascular system MP:0005385 10.11 EYA1 EYA3 GJB2 HOXA2 PAX2 ROBO2
13 craniofacial MP:0005382 10.03 EYA1 EYA4 GJB2 HOXA2 SIX1 SIX2
14 skeleton MP:0005390 9.85 EYA1 EYA3 GJB2 HOXA2 SALL1 SIX1
15 respiratory system MP:0005388 9.8 DACH1 EYA1 EYA3 HOXA2 ROBO2 SIX1
16 vision/eye MP:0005391 9.61 EYA1 EYA3 GJB2 PAX2 SIX1 SIX4
17 mortality/aging MP:0010768 9.44 DACH1 EYA1 EYA4 GJB2 HOXA2 PAX2

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 Spectrum Disorders 28
2 Branchiootorenal (bor) Syndrome 28

Anatomical Context for Branchiootorenal Syndrome

Organs/tissues related to Branchiootorenal Syndrome:

MalaCards : Tonsil, Kidney, Bone, Skin, Salivary Gland, Lung, Smooth Muscle

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

(show top 50) (show all 306)
# 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. 53 62 5
19206155 2009
2
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 53 62 5
18220287 2008
3
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 53 62 5
18177466 2008
4
EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. 53 62 5
16491411 2006
5
Comprehensive analysis of syndromic hearing loss patients in Japan. 62 5
31427586 2019
6
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. 62 5
29500469 2018
7
Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 62 5
23840632 2013
8
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. 62 5
21280147 2011
9
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 62 5
10991693 2000
10
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 62 5
9020840 1997
11
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 62 5
10464653 1997
12
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 5
26969326 2016
13
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 5
16691597 2006
14
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
15
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. 53 62
20130917 2010
16
SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation. 53 62
20110314 2010
17
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 53 62
19951260 2010
18
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 53 62
19497856 2009
19
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. 53 62
19389353 2009
20
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. 53 62
19215039 2009
21
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. 53 62
19667416 2009
22
Differential expression of Eya1 and Eya2 during chick early embryonic development. 53 62
18316249 2008
23
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 53 62
18330911 2008
24
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 53 62
17637804 2007
25
Branchio-oto-renal syndrome. 53 62
17238186 2007
26
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. 53 62
17364338 2007
27
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. 53 62
17049623 2007
28
Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. 53 62
16916509 2006
29
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 53 62
16971658 2006
30
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. 53 62
16797546 2006
31
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. 53 62
17419499 2006
32
Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. 53 62
16005355 2005
33
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. 53 62
15802522 2005
34
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. 53 62
15491396 2004
35
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 53 62
15492887 2004
36
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 53 62
15146463 2004
37
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 53 62
15141091 2004
38
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. 53 62
15684871 2004
39
Branchio-oto-renal syndrome. 53 62
14696767 2003
40
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. 53 62
12404110 2002
41
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 53 62
11950062 2002
42
Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. 53 62
11734542 2001
43
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. 53 62
11465802 2001
44
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. 53 62
11409867 2001
45
A family affected by branchio-oto syndrome with EYA1 mutations. 53 62
11683347 2001
46
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 53 62
10767004 2000
47
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 53 62
10655545 2000
48
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 53 62
10471511 1999
49
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. 53 62
10072433 1999
50
Branchio-oculo-facial syndrome: case report. 53 62
10418222 1999

Variations for Branchiootorenal Syndrome

ClinVar genetic disease variations for Branchiootorenal Syndrome:

5 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EYA1 NM_000503.6(EYA1):c.966+5G>A SNV Pathogenic
7945 rs606231357 GRCh37: 8:72183988-72183988
GRCh38: 8:71271753-71271753
2 EYA1 NM_000503.6(EYA1):c.1051-2A>G SNV Pathogenic
1457237 GRCh37: 8:72156929-72156929
GRCh38: 8:71244694-71244694
3 EYA1 NC_000008.10:g.(?_72123371)_(72123511_?)del DEL Pathogenic
1457573 GRCh37: 8:72123371-72123511
GRCh38:
4 EYA1 NM_000503.6(EYA1):c.1236dup (p.Ala413fs) DUP Pathogenic
1458401 GRCh37: 8:72129050-72129051
GRCh38: 8:71216815-71216816
5 EYA1 NM_000503.6(EYA1):c.355C>T (p.Gln119Ter) SNV Pathogenic
1433497 GRCh37: 8:72234032-72234032
GRCh38: 8:71321797-71321797
6 EYA1 NM_000503.6(EYA1):c.1182dup (p.Asn395Ter) DUP Pathogenic
1455041 GRCh37: 8:72129216-72129217
GRCh38: 8:71216981-71216982
7 EYA1 NM_000503.6(EYA1):c.782del (p.Pro261fs) DEL Pathogenic
1428718 GRCh37: 8:72211326-72211326
GRCh38: 8:71299091-71299091
8 EYA1 NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) DEL Pathogenic
657022 rs1585812463 GRCh37: 8:72127903-72127906
GRCh38: 8:71215668-71215671
9 EYA1 NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) SNV Pathogenic
844683 rs1586333305 GRCh37: 8:72229873-72229873
GRCh38: 8:71317638-71317638
10 EYA1 NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) SNV Pathogenic
854280 rs727503047 GRCh37: 8:72129213-72129213
GRCh38: 8:71216978-71216978
11 EYA1 NM_000503.6(EYA1):c.1140+1G>T SNV Pathogenic
952495 rs1812855196 GRCh37: 8:72156837-72156837
GRCh38: 8:71244602-71244602
12 EYA1 NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) SNV Pathogenic
957904 rs1475718221 GRCh37: 8:72127891-72127891
GRCh38: 8:71215656-71215656
13 EYA1 NC_000008.11:g.(?_71269720)_(71271917_?)del DEL Pathogenic
832783 GRCh37: 8:72181955-72184152
GRCh38:
14 EYA1 NC_000008.11:g.(?_71244583)_(71322288_?)del DEL Pathogenic
528878 GRCh37: 8:72156818-72234523
GRCh38: 8:71244583-71322288
15 EYA1 NC_000008.10:g.(?_72111575)_(72267140_?)del DEL Pathogenic
1452496 GRCh37: 8:72111575-72267140
GRCh38:
16 EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) SNV Pathogenic
7929 rs121909195 GRCh37: 8:72184037-72184037
GRCh38: 8:71271802-71271802
17 EYA1 NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) SNV Pathogenic
429912 rs1131691667 GRCh37: 8:72184070-72184070
GRCh38: 8:71271835-71271835
18 EYA1 NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) SNV Pathogenic
522400 rs1554615511 GRCh37: 8:72181981-72181981
GRCh38: 8:71269746-71269746
19 EYA1 NM_000503.6(EYA1):c.1598-2A>G SNV Pathogenic
837632 rs1808471410 GRCh37: 8:72123493-72123493
GRCh38: 8:71211258-71211258
20 EYA1 NM_000503.6(EYA1):c.1050+1G>T SNV Pathogenic
854287 rs1816289467 GRCh37: 8:72181974-72181974
GRCh38: 8:71269739-71269739
21 EYA1 NM_000503.6(EYA1):c.806del (p.Ala269fs) DEL Pathogenic
856463 rs1819903817 GRCh37: 8:72211302-72211302
GRCh38: 8:71299067-71299067
22 EYA1 NM_000503.6(EYA1):c.1635del (p.Phe545fs) DEL Pathogenic
945460 rs1808464696 GRCh37: 8:72123454-72123454
GRCh38: 8:71211219-71211219
23 EYA1 NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) SNV Pathogenic
957517 rs1822069596 GRCh37: 8:72229877-72229877
GRCh38: 8:71317642-71317642
24 EYA1 NM_000503.6(EYA1):c.1698+1G>T SNV Pathogenic
1069048 GRCh37: 8:72123390-72123390
GRCh38: 8:71211155-71211155
25 EYA1 NM_000503.6(EYA1):c.1644del (p.Val549fs) DEL Pathogenic
1069049 GRCh37: 8:72123445-72123445
GRCh38: 8:71211210-71211210
26 EYA1 NM_000503.6(EYA1):c.1476-2A>T SNV Pathogenic
1072507 GRCh37: 8:72127745-72127745
GRCh38: 8:71215510-71215510
27 EYA1 NC_000008.11:g.(?_71269720)_(71269843_?)del DEL Pathogenic
831168 GRCh37: 8:72181955-72182078
GRCh38:
28 EYA1 NM_000503.6(EYA1):c.1315del (p.Arg439fs) DEL Pathogenic
1370990 GRCh37: 8:72128972-72128972
GRCh38: 8:71216737-71216737
29 EYA1 NM_000503.6(EYA1):c.1619_1620del (p.Arg540fs) MICROSAT Pathogenic
1391097 GRCh37: 8:72123469-72123470
GRCh38: 8:71211234-71211235
30 EYA1 NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) MICROSAT Pathogenic
1459746 GRCh37: 8:72127731-72127732
GRCh38: 8:71215496-71215497
31 EYA1 NM_000503.6(EYA1):c.1325_1326del (p.Lys442fs) DEL Pathogenic
1457990 GRCh37: 8:72128961-72128962
GRCh38: 8:71216726-71216727
32 EYA1 NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) SNV Pathogenic
1448479 GRCh37: 8:72211333-72211333
GRCh38: 8:71299098-71299098
33 EYA1 NM_000503.6(EYA1):c.490dup (p.Leu164fs) DUP Pathogenic
1453510 GRCh37: 8:72229852-72229853
GRCh38: 8:71317617-71317618
34 EYA1 NM_000503.6(EYA1):c.637C>T (p.Gln213Ter) SNV Pathogenic
1069545 GRCh37: 8:72211875-72211875
GRCh38: 8:71299640-71299640
35 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) SNV Pathogenic
7935 rs121909196 GRCh37: 8:72128968-72128968
GRCh38: 8:71216733-71216733
36 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) SNV Pathogenic
7943 rs121909202 GRCh37: 8:72156897-72156897
GRCh38: 8:71244662-71244662
37 EYA1 NM_000503.5(EYA1):c.557del DEL Pathogenic
988191 rs1819990660 GRCh37: 8:72211955-72211955
GRCh38: 8:71299720-71299720
38 EYA1 NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) SNV Pathogenic
459253 rs1481254965 GRCh37: 8:72123405-72123405
GRCh38: 8:71211170-71211170
39 EYA1 NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) SNV Pathogenic
459254 rs200164773 GRCh37: 8:72234477-72234477
GRCh38: 8:71322242-71322242
40 EYA1 NM_000503.6(EYA1):c.640-15_698del DEL Pathogenic
459256 rs1554541834 GRCh37: 8:72211410-72211483
GRCh38: 8:71299175-71299248
41 EYA1 NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) SNV Pathogenic
567492 rs1563422304 GRCh37: 8:72211426-72211426
GRCh38: 8:71299191-71299191
42 EYA1 NM_000503.6(EYA1):c.1200-1G>A SNV Pathogenic
578749 rs1563634200 GRCh37: 8:72129088-72129088
GRCh38: 8:71216853-71216853
43 EYA1 NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) DEL Pathogenic
528874 rs1554615536 GRCh37: 8:72182009-72182012
GRCh38: 8:71269774-71269777
44 EYA1 NM_000503.6(EYA1):c.532del (p.Ala178fs) DEL Pathogenic
528877 rs1554548840 GRCh37: 8:72229811-72229811
GRCh38: 8:71317576-71317576
45 EYA1 NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs) MICROSAT Pathogenic
528876 rs1554596461 GRCh37: 8:72128957-72128958
GRCh38: 8:71216722-71216723
46 EYA1 NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) DEL Pathogenic
653122 rs1585817892 GRCh37: 8:72128932-72128933
GRCh38: 8:71216697-71216698
47 EYA1 NM_000503.6(EYA1):c.1272dup (p.Arg425fs) DUP Pathogenic
1422984 GRCh37: 8:72129014-72129015
GRCh38: 8:71216779-71216780
48 EYA1 NC_000008.11:g.(?_71199320)_(71356506_?)del DEL Pathogenic
584228 GRCh37: 8:72111555-72268741
GRCh38: 8:71199320-71356506
49 EYA1 NC_000008.11:g.(?_71244583)_(71244712_?)del DEL Pathogenic
831405 GRCh37: 8:72156818-72156947
GRCh38:
50 EYA1 NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) SNV Pathogenic
834788 rs1816578250 GRCh37: 8:72184079-72184079
GRCh38: 8:71271844-71271844

Copy number variations for Branchiootorenal Syndrome from CNVD:

6
# CNVD ID Chromosome 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 chromatin GO:0000785 9.86 TFAP2A SIX6 SIX5 SIX4 SIX2 SIX1
2 transcription regulator complex GO:0005667 9.47 SIX6 SIX5 SIX4 SIX2 SIX1 EYA3

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.65 TFAP2A SIX6 SIX5 SIX4 SIX2 SIX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.57 TFAP2A SIX5 SIX4 SIX2 SIX1 SALL1
3 negative regulation of DNA-templated transcription GO:0045892 10.42 DACH1 PAX2 SALL1 SIX1 SIX4 SIX5
4 regulation of DNA-templated transcription GO:0006355 10.27 DACH1 HOXA2 PAX2 SIX1 SIX2 SIX4
5 kidney development GO:0001822 10.26 SALL1 SIX1 SIX2 TFAP2A
6 anatomical structure morphogenesis GO:0009653 10.25 SIX4 SIX2 EYA4 EYA3 EYA1
7 sensory perception of sound GO:0007605 10.18 TFAP2A SLC26A4 SIX1 GJB2 EYA4 EYA1
8 inner ear development GO:0048839 10.15 SIX1 GJB2 EYA4
9 branching involved in ureteric bud morphogenesis GO:0001658 10.14 SIX1 SALL1 PAX2 EYA1
10 positive regulation of DNA repair GO:0045739 10.13 EYA1 EYA2 EYA3 EYA4
11 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 10.08 EYA4 EYA3 EYA2 EYA1
12 pattern specification process GO:0007389 10.06 SIX1 HOXA2 EYA1
13 cochlea morphogenesis GO:0090103 10.06 SIX1 PAX2 EYA1
14 ureteric bud development GO:0001657 10.05 SIX1 SALL1 ROBO2 EYA1
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 10.03 SIX4 SIX1 PAX2
16 embryonic cranial skeleton morphogenesis GO:0048701 10.03 SIX1 SIX2 SIX4 TFAP2A
17 metanephros development GO:0001656 10.02 SIX2 ROBO2 EYA1
18 generation of neurons GO:0048699 9.98 SIX4 SIX1
19 negative regulation of transcription by competitive promoter binding GO:0010944 9.98 TFAP2A DACH1
20 myoblast migration GO:0051451 9.97 SIX4 SIX1
21 metanephric mesenchyme development GO:0072075 9.97 SIX4 SIX1 PAX2
22 middle ear morphogenesis GO:0042474 9.97 SIX2 SIX1 HOXA2 EYA1
23 inner ear morphogenesis GO:0042472 9.97 TFAP2A SIX4 SIX1 PAX2 EYA1
24 striated muscle tissue development GO:0014706 9.95 EYA2 EYA1
25 regulation of synaptic assembly at neuromuscular junction GO:0008582 9.94 SIX4 SIX1
26 myotome development GO:0061055 9.94 SIX1 SIX4
27 trigeminal ganglion development GO:0061551 9.93 SIX1 SIX4
28 positive regulation of ureteric bud formation GO:0072107 9.93 SIX1 SIX4
29 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.93 SIX2 SALL1 PAX2
30 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.92 EYA1 SIX1
31 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.9 SIX4 SIX1
32 olfactory placode formation GO:0030910 9.89 SIX4 SIX1
33 fungiform papilla morphogenesis GO:0061197 9.88 SIX4 SIX1
34 pharyngeal system development GO:0060037 9.86 EYA1 HOXA2 SIX1 SIX4
35 tongue development GO:0043586 9.85 SIX4 SIX1
36 histone modification GO:0016570 9.84 EYA3 EYA2 EYA1
37 otic vesicle development GO:0071599 9.83 SIX1 EYA1
38 embryonic skeletal system morphogenesis GO:0048704 9.7 SIX4 SIX2 SIX1 HOXA2 EYA1
39 mesodermal cell fate specification GO:0007501 9.56 SIX2 PAX2 EYA2 EYA1
40 anatomical structure development GO:0048856 9.47 TFAP2A SIX4 SIX1 PAX2 EYA4 EYA3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.27 TFAP2A SIX6 SIX5 SIX4 SIX2 SIX1
2 sequence-specific double-stranded DNA binding GO:1990837 10.17 TFAP2A SIX6 SIX4 SIX2 SIX1 PAX2
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.16 TFAP2A SIX6 SIX5 SIX4 SIX2 SIX1
4 protein tyrosine phosphatase activity GO:0004725 10.03 EYA4 EYA3 EYA2 EYA1
5 sequence-specific DNA binding GO:0043565 9.97 HOXA2 SIX1 SIX2 SIX4 SIX5 TFAP2A
6 DNA-binding transcription factor activity GO:0003700 9.96 DACH1 HOXA2 PAX2 SIX1 SIX2 SIX4
7 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.96 DACH1 HOXA2 PAX2 SALL1 SIX1 SIX2
8 phosphoprotein phosphatase activity GO:0004721 9.71 EYA4 EYA3 EYA2 EYA1
9 histone H2Y142 phosphatase activity GO:0140793 9.1 EYA3 EYA2 EYA1

Sources for Branchiootorenal Syndrome

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