MCID: BRN006
MIFTS: 50

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 20 58 15
Branchio-Oto-Renal Syndrome 12 74 36 44 71
Bor Syndrome 20 58 54
Branchiootorenal Dysplasia 12 20
Melnick-Fraser Syndrome 12 20
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 20
Branchiootorenal Syndrome 29

Characteristics:

Orphanet epidemiological data:

58
bor syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

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


External Ids:

Disease Ontology 12 DOID:14702
KEGG 36 H00453
MeSH 44 D019280
NCIt 50 C98983
SNOMED-CT 67 290006
MESH via Orphanet 45 D019280
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0265234
Orphanet 58 ORPHA107
UMLS 71 C0265234

Summaries for Branchiootorenal Syndrome

GARD : 20 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 2 and branchiootorenal syndrome 1. An important gene associated with Branchiootorenal Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways is DNA Double Strand Break Response. Affiliated tissues include kidney, smooth muscle and salivary gland, and related phenotypes are hearing impairment and external ear malformation

Disease Ontology : 12 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.

KEGG : 36 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 : 74 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:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 2 33.1 SIX5 SIX1 LOC107075317 EYA1 DM1-AS
2 branchiootorenal syndrome 1 32.7 SIX5 SIX4 SIX1 SCAMP1 EYA4 EYA3
3 cakut 32.5 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
4 branchiootorenal spectrum disorder 31.8 SIX5 SIX1 EYA1
5 renal hypoplasia 31.3 SIX2 SIX1 SALL1 PAX2 EYA1
6 ear malformation 31.2 FOXI1 EYA1
7 oligomeganephronia 31.2 PAX2 EYA1
8 renal hypodysplasia/aplasia 1 31.1 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
9 hemifacial microsomia 30.9 SALL1 OTX2
10 patulous eustachian tube 30.8 SIX1 EYA1
11 deafness, autosomal dominant 10 30.8 SIX5 SIX1 EYA4 EYA3 EYA1
12 townes-brocks syndrome 30.7 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
13 complex chromosomal rearrangement 30.6 SIX6 SIX1 OTX2
14 cataract 30.5 SIX6 SIX5 PAX2 OTX2 EYA1
15 branchiootic syndrome 29.9 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
16 branchiootic syndrome 1 11.2
17 branchiootic syndrome 3 11.0
18 branchiootorenal/branchiootic syndrome 11.0
19 renal dysplasia 10.5
20 fraser syndrome 1 10.5
21 branchial cleft anomalies 10.4
22 proteinuria, chronic benign 10.4
23 sensorineural hearing loss 10.4
24 chronic kidney disease 10.4
25 bilateral renal aplasia 10.4 PAX2 EYA1
26 lacrimal duct obstruction 10.4 SIX5 EYA1
27 congenital anomalies of kidney and urinary tract 2 10.4 SIX5 PAX2 EYA1
28 myotonic dystrophy 10.4 SIX5 LOC107075317 DM1-AS
29 prune belly syndrome 10.4 SIX1 SALL1 PAX2
30 optic nerve hypoplasia, bilateral 10.4 SIX6 PAX2 OTX2
31 branchial arch defects 10.4
32 isolated microphthalmia 10.4 SIX6 OTX2
33 eustachian tube disease 10.4 SIX1 EYA1
34 cardiomyopathy, dilated, 1j 10.4 EYA4 EYA3 EYA2 EYA1
35 axenfeld-rieger syndrome 10.4 PAX2 EYA2 EYA1
36 aniridia 1 10.4 SIX6 PAX2 OTX2 EYA1
37 colobomatous microphthalmia 10.4 PAX2 OTX2 DACH1
38 autosomal dominant nonsyndromic deafness 10.4 SIX1 EYA4 EYA1
39 syndromic microphthalmia 10.3 SIX6 OTX2 EYA3 EYA2 EYA1
40 coloboma of macula 10.3 SIX6 SALL1 PAX2 OTX2 EYA1
41 papillorenal syndrome 10.3 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
42 vesicoureteral reflux 1 10.3 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
43 cholesteatoma of middle ear 10.3
44 microphthalmia 10.3 SIX6 SALL1 PAX2 OTX2 EYA2 EYA1
45 holoprosencephaly 10.3 SIX6 SIX2 SIX1 PAX2 OTX2 EYA4
46 malignant peripheral nerve sheath tumor 10.3 SIX1 EYA4 EYA3 EYA2 EYA1 DACH1
47 townes-brocks syndrome 1 10.1
48 gastroesophageal reflux 10.1
49 branchiooculofacial syndrome 10.1
50 cleft palate, isolated 10.1

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 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
3 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
4 preauricular skin tag 58 31 frequent (33%) Frequent (79-30%) HP:0000384
5 enlarged cochlear aqueduct 58 31 frequent (33%) Frequent (79-30%) HP:0011388
6 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
7 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
8 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
9 hypoplasia of the cochlea 58 31 frequent (33%) Frequent (79-30%) HP:0008586
10 branchial cyst 58 31 frequent (33%) Frequent (79-30%) HP:0009796
11 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
12 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
13 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
14 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
15 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
16 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
17 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
18 ureteropelvic junction obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000074
19 abnormal lacrimal duct morphology 31 occasional (7.5%) HP:0011481
20 abnormality of the lacrimal duct 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 DACH1 EYA1 EYA4 FOXI1 OTX2 PAX2
2 hearing/vestibular/ear MP:0005377 9.61 EYA1 EYA3 EYA4 FOXI1 OTX2 PAX2
3 renal/urinary system MP:0005367 9.17 EYA1 EYA3 FOXI1 PAX2 SALL1 SIX1

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:

40
Kidney, Smooth Muscle, Salivary Gland

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

(show top 50) (show all 198)
# 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. 6 61 54
19206155 2009
2
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 54 61 6
9603436 1998
3
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 54 6
18177466 2008
4
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 6 61
17357085 2007
5
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 54 6
9361030 1997
6
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 6 61
10464653 1997
7
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6
16691597 2006
8
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 6
10991693 2000
9
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 6
9020840 1997
10
Familial hearing loss associated with branchial fistulas. 6
5365063 1969
11
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. 61 54
20130917 2010
12
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 54 61
19951260 2010
13
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 54 61
19497856 2009
14
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. 61 54
19389353 2009
15
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. 54 61
19215039 2009
16
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. 61 54
19667416 2009
17
Differential expression of Eya1 and Eya2 during chick early embryonic development. 61 54
18316249 2008
18
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 61 54
18330911 2008
19
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 54 61
18220287 2008
20
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 54 61
17637804 2007
21
Branchio-oto-renal syndrome. 61 54
17238186 2007
22
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. 54 61
17364338 2007
23
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. 54 61
17049623 2007
24
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 61 54
16971658 2006
25
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. 61 54
16797546 2006
26
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. 54 61
17419499 2006
27
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. 54 61
15802522 2005
28
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. 61 54
15491396 2004
29
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 54 61
15492887 2004
30
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 61 54
15146463 2004
31
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 61 54
15141091 2004
32
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. 61 54
15684871 2004
33
Branchio-oto-renal syndrome. 54 61
14696767 2003
34
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 61 54
11950062 2002
35
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. 61 54
11465802 2001
36
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 54 61
10767004 2000
37
Branchio-oculo-facial syndrome: case report. 61 54
10418222 1999
38
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. 54 61
10429368 1999
39
Mcrs1 interacts with Six1 to influence early craniofacial and otic development. 61
32891623 2020
40
Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review. 61
32689865 2020
41
[Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation]. 61
32347381 2020
42
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. 61
30908667 2020
43
[Prenatal diagnosis of a case with Branchi-oto-renal syndrome]. 61
31813150 2019
44
[Congenital anomalies of the external ear]. 61
31791458 2019
45
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. 61
31384484 2019
46
[Research progress of congenital preauricular fistula]. 61
31163564 2019
47
Imaging Findings in Syndromes with Temporal Bone Abnormalities. 61
30466636 2019
48
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. 61
31379922 2019
49
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. 61
30385470 2018
50
Second branchial cleft anomalies in children: a literature review. 61
30251021 2018

Variations for Branchiootorenal Syndrome

ClinVar genetic disease variations for Branchiootorenal Syndrome:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) SNV Pathogenic 7929 rs121909195 8:72184037-72184037 8:71271802-71271802
2 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC Indel Pathogenic 7930
3 EYA1 EYA1, ALU INS, EX10 Insertion Pathogenic 7933
4 EYA1 NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) Deletion Pathogenic 7934 rs606231355 8:72123391-72123394 8:71211156-71211159
5 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) SNV Pathogenic 7935 rs121909196 8:72128968-72128968 8:71216733-71216733
6 EYA1 EYA1, 1-BP INS, 387T Insertion Pathogenic 7939
7 EYA1 NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) SNV Pathogenic 7940 rs121909200 8:72127865-72127865 8:71215630-71215630
8 EYA1 NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) SNV Pathogenic 7941 rs121909201 8:72127705-72127705 8:71215470-71215470
9 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) SNV Pathogenic 7943 rs121909202 8:72156897-72156897 8:71244662-71244662
10 EYA1 NM_000503.6(EYA1):c.966+5G>A SNV Pathogenic 7945 rs606231357 8:72183988-72183988 8:71271753-71271753
11 DM1-AS NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) SNV Pathogenic 8598 rs80356461 19:46271631-46271631 19:45768373-45768373
12 SIX5 NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) SNV Pathogenic 8599 rs80356462 19:46270331-46270331 19:45767073-45767073
13 SIX5 NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) SNV Pathogenic 8600 rs80356463 19:46270124-46270124 19:45766866-45766866
14 SIX1 NM_005982.4(SIX1):c.317T>G (p.Val106Gly) SNV Pathogenic 65696 rs397515560 14:61115591-61115591 14:60648873-60648873
15 SIX1 NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) SNV Pathogenic 65697 rs397515561 14:61115574-61115574 14:60648856-60648856
16 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
17 SIX1 NM_005982.4(SIX1):c.50T>A (p.Val17Glu) SNV Pathogenic 65698 rs397515562 14:61115858-61115858 14:60649140-60649140
18 EYA1 NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) SNV Pathogenic 459253 rs1481254965 8:72123405-72123405 8:71211170-71211170
19 EYA1 NM_000503.6(EYA1):c.640-15_698del Deletion Pathogenic 459256 rs1554541834 8:72211410-72211483 8:71299175-71299248
20 EYA1 NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) SNV Pathogenic 459254 rs200164773 8:72234477-72234477 8:71322242-71322242
21 EYA1 NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs) Microsatellite Pathogenic 528876 rs1554596461 8:72128957-72128958 8:71216722-71216723
22 EYA1 NM_000503.6(EYA1):c.532del (p.Ala178fs) Deletion Pathogenic 528877 rs1554548840 8:72229811-72229811 8:71317576-71317576
23 EYA1 NC_000008.11:g.(?_71244583)_(71322288_?)del Deletion Pathogenic 528878 8:72156818-72234523 8:71244583-71322288
24 EYA1 NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) SNV Pathogenic 567492 rs1563422304 8:72211426-72211426 8:71299191-71299191
25 EYA1 NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) SNV Pathogenic 429912 rs1131691667 8:72184070-72184070 8:71271835-71271835
26 EYA1 NM_000503.6(EYA1):c.1200-1G>A SNV Pathogenic 578749 rs1563634200 8:72129088-72129088 8:71216853-71216853
27 EYA1 NC_000008.11:g.(?_71199320)_(71356506_?)del Deletion Pathogenic 584228 8:72111555-72268741 8:71199320-71356506
28 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
29 EYA1 NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) Deletion Pathogenic 653122 rs1585817892 8:72128932-72128933 8:71216697-71216698
30 EYA1 NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) Deletion Pathogenic 657022 rs1585812463 8:72127903-72127906 8:71215668-71215671
31 EYA1 NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) Deletion Pathogenic 528874 rs1554615536 8:72182009-72182012 8:71269774-71269777
32 EYA1 NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) SNV Pathogenic 807414 rs529483320 8:72211430-72211430 8:71299195-71299195
33 EYA1 NC_000008.11:g.(?_71269720)_(71269843_?)del Deletion Pathogenic 831168 8:72181955-72182078
34 EYA1 NC_000008.11:g.(?_71244583)_(71244712_?)del Deletion Pathogenic 831405 8:72156818-72156947
35 EYA1 NC_000008.11:g.(?_71269720)_(71271917_?)del Deletion Pathogenic 832783 8:72181955-72184152
36 EYA1 NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) SNV Pathogenic 834788 8:72184079-72184079 8:71271844-71271844
37 EYA1 NM_000503.6(EYA1):c.1598-2A>G SNV Pathogenic 837632 8:72123493-72123493 8:71211258-71211258
38 EYA1 NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) SNV Pathogenic 844683 8:72229873-72229873 8:71317638-71317638
39 EYA1 NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) SNV Pathogenic 854280 8:72129213-72129213 8:71216978-71216978
40 EYA1 NM_000503.6(EYA1):c.1050+1G>T SNV Pathogenic 854287 8:72181974-72181974 8:71269739-71269739
41 EYA1 NM_000503.6(EYA1):c.806del (p.Ala269fs) Deletion Pathogenic 856463 8:72211302-72211302 8:71299067-71299067
42 EYA1 NM_000503.6(EYA1):c.1635del (p.Phe545fs) Deletion Pathogenic 945460 8:72123454-72123454 8:71211219-71211219
43 EYA1 NM_000503.6(EYA1):c.1140+1G>T SNV Pathogenic 952495 8:72156837-72156837 8:71244602-71244602
44 EYA1 NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) SNV Pathogenic 957517 8:72229877-72229877 8:71317642-71317642
45 EYA1 NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) SNV Pathogenic 957904 8:72127891-72127891 8:71215656-71215656
46 EYA1 NM_000503.6(EYA1):c.1259del (p.Leu420fs) Deletion Pathogenic 975072 8:72129028-72129028 8:71216793-71216793
47 EYA1 NM_000503.6(EYA1):c.929del (p.Asn310fs) Deletion Pathogenic 974520 8:72184030-72184030 8:71271795-71271795
48 EYA1 NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) SNV Pathogenic 522400 rs1554615511 8:72181981-72181981 8:71269746-71269746
49 EYA1 NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) Insertion Likely pathogenic 830006 rs1586244371 8:72211358-72211359 8:71299123-71299124
50 EYA1 NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) SNV Likely pathogenic 812585 rs139717960 8:72127864-72127864 8:71215629-71215629

Copy number variations for Branchiootorenal Syndrome from CNVD:

7
# 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

Pathways related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 EYA4 EYA3 EYA2 EYA1

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 10 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 chromatin GO:0000785 9.56 SIX6 SIX5 SIX4 SIX2 SIX1 PAX2
3 transcription factor complex GO:0005667 9.17 SIX6 SIX5 SIX4 SIX2 SIX1 EYA3

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.24 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 regulation of transcription, DNA-templated GO:0006355 10.23 SIX6 SIX5 SIX4 SIX2 SIX1 PAX2
3 cell differentiation GO:0030154 10.16 PAX2 FOXI1 EYA4 EYA3 EYA2 EYA1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 SIX5 SIX4 SIX2 SIX1 SALL1 PAX2
5 positive regulation of transcription, DNA-templated GO:0045893 10.13 SIX4 SIX1 SALL1 PAX2 OTX2 FOXI1
6 negative regulation of transcription, DNA-templated GO:0045892 10.12 SIX5 SIX4 SIX1 SALL1 PAX2 DACH1
7 DNA repair GO:0006281 10 EYA4 EYA3 EYA2 EYA1
8 chromatin organization GO:0006325 9.99 EYA4 EYA3 EYA2 EYA1
9 visual perception GO:0007601 9.97 SIX6 PAX2 EYA4 EYA3
10 protein dephosphorylation GO:0006470 9.96 EYA4 EYA3 EYA2 EYA1
11 peptidyl-tyrosine dephosphorylation GO:0035335 9.91 EYA4 EYA3 EYA2 EYA1
12 sensory perception of sound GO:0007605 9.87 SIX1 EYA4 EYA1
13 kidney development GO:0001822 9.87 SIX2 SIX1 SALL1
14 embryonic skeletal system morphogenesis GO:0048704 9.83 SIX4 SIX2 SIX1 EYA1
15 ureteric bud development GO:0001657 9.81 SIX1 SALL1 EYA1
16 anatomical structure morphogenesis GO:0009653 9.8 SIX4 SIX2 FOXI1 EYA4 EYA3 EYA1
17 embryonic cranial skeleton morphogenesis GO:0048701 9.79 SIX4 SIX2 SIX1
18 branching involved in ureteric bud morphogenesis GO:0001658 9.78 SIX1 SALL1 PAX2 EYA1
19 cochlea morphogenesis GO:0090103 9.77 SIX1 PAX2 EYA1
20 inner ear morphogenesis GO:0042472 9.77 SIX4 SIX1 PAX2 FOXI1 EYA1
21 middle ear morphogenesis GO:0042474 9.74 SIX2 SIX1 EYA1
22 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.73 SIX4 SIX1 PAX2
23 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.73 EYA4 EYA3 EYA2 EYA1
24 multicellular organism development GO:0007275 9.73 SIX6 SIX5 SIX4 SIX2 SIX1 PAX2
25 pharyngeal system development GO:0060037 9.72 SIX4 SIX1 EYA1
26 positive regulation of DNA repair GO:0045739 9.71 EYA4 EYA3 EYA2 EYA1
27 neuron fate specification GO:0048665 9.69 SIX1 EYA1
28 aorta morphogenesis GO:0035909 9.68 SIX1 EYA1
29 regulation of epithelial cell proliferation GO:0050678 9.68 SIX4 SIX1
30 generation of neurons GO:0048699 9.68 SIX4 SIX1
31 tongue development GO:0043586 9.68 SIX4 SIX1
32 myoblast migration GO:0051451 9.67 SIX4 SIX1
33 otic vesicle development GO:0071599 9.67 SIX1 EYA1
34 metanephric mesenchyme development GO:0072075 9.67 SIX4 SIX1 PAX2
35 regulation of synaptic growth at neuromuscular junction GO:0008582 9.66 SIX4 SIX1
36 positive regulation of ureteric bud formation GO:0072107 9.65 SIX4 SIX1
37 trigeminal ganglion development GO:0061551 9.65 SIX4 SIX1
38 striated muscle tissue development GO:0014706 9.65 EYA2 EYA1
39 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.63 SIX1 EYA1
40 myotome development GO:0061055 9.63 SIX4 SIX1
41 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.63 SIX2 SALL1 PAX2
42 olfactory placode formation GO:0030910 9.62 SIX4 SIX1
43 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.61 SIX4 SIX1
44 fungiform papilla morphogenesis GO:0061197 9.6 SIX4 SIX1
45 histone dephosphorylation GO:0016576 9.56 EYA4 EYA3 EYA2 EYA1
46 mesodermal cell fate specification GO:0007501 9.46 SIX2 PAX2 EYA2 EYA1
47 anatomical structure development GO:0048856 9.17 SIX4 SIX1 PAX2 EYA4 EYA3 EYA2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.1 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
2 sequence-specific DNA binding GO:0043565 9.85 SIX5 SIX4 SIX2 SIX1 FOXI1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 SIX5 SIX4 SIX2 SIX1 OTX2 FOXI1
4 DNA-binding transcription factor activity GO:0003700 9.8 SIX4 SIX2 SIX1 PAX2 OTX2 FOXI1
5 transcription factor binding GO:0008134 9.78 SIX2 PAX2 EYA4 EYA2
6 phosphoprotein phosphatase activity GO:0004721 9.73 EYA4 EYA3 EYA2 EYA1
7 sequence-specific double-stranded DNA binding GO:1990837 9.7 SIX6 SIX4 SIX2 SIX1 PAX2 OTX2
8 protein tyrosine phosphatase activity GO:0004725 9.67 EYA4 EYA3 EYA2 EYA1
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.65 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1
10 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.32 SIX6 SIX5 SIX4 SIX2 SIX1 SALL1

Sources for Branchiootorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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