BOR1
MCID: BRN131
MIFTS: 45

Branchiootorenal Syndrome 1 (BOR1)

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

Aliases & Classifications for Branchiootorenal Syndrome 1

MalaCards integrated aliases for Branchiootorenal Syndrome 1:

Name: Branchiootorenal Syndrome 1 57 12 73 29 6 15
Melnick-Fraser Syndrome 57 73 29
Bor1 57 12 73
Branchiootorenal Syndrome, with/without Cataract, Type 1 39
Branchiootorenal Syndrome 1, with or Without Cataracts 57
Branchio-Oto-Renal Syndrome Type 1 73
Branchio-Oto-Renal Dysplasia 1 73
Branchiootorenal Dysplasia 1 73
Branchio-Oto-Renal Syndrome 71
Branchiootorenal Dysplasia 57
Bor Syndrome 1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
genetic heterogeneity (bor2, )
onset of hearing loss ranges from childhood to young adulthood
prevalence of 1 in 40,000
allelic disorder to branchiootic syndrome (bos1, ) and otofaciocervical syndrome

Inheritance:
autosomal dominant


HPO:

31
branchiootorenal syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



Summaries for Branchiootorenal Syndrome 1

OMIM® : 57 Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). (113650) (Updated 05-Mar-2021)

MalaCards based summary : Branchiootorenal Syndrome 1, also known as melnick-fraser syndrome, is related to branchiootorenal syndrome and branchiootorenal syndrome 2. An important gene associated with Branchiootorenal Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include kidney, and related phenotypes are facial palsy and microtia

Disease Ontology : 12 A branchiootorenal syndrome that has material basis in heterozygous mutation in EYA1 on chromosome 8q13.3.

UniProtKB/Swiss-Prot : 73 Branchiootorenal syndrome 1: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

Related Diseases for Branchiootorenal Syndrome 1

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 30.6 VTA1 SLC4A5 SLC4A4 SIX5 SIX4 SIX1
2 branchiootorenal syndrome 2 30.4 SIX5 SIX1 EYA1
3 branchiootorenal/branchiootic syndrome 11.1
4 branchiootic syndrome 1 11.0
5 fraser syndrome 1 10.5
6 lacrimal duct obstruction 10.3 SIX5 EYA1
7 eustachian tube disease 10.3 SIX1 EYA1
8 branchiootorenal spectrum disorder 10.3 SIX5 SIX1 EYA1
9 patulous eustachian tube 10.3 SIX1 EYA1
10 intestinal impaction 10.3 SLC4A5 SLC4A4
11 papillorenal syndrome 10.3 SIX5 SIX1 EYA1
12 townes-brocks syndrome 10.3 SIX5 SIX1 EYA1
13 vesicoureteral reflux 1 10.3 SIX5 SIX1 EYA1
14 cakut 10.3 SIX5 SIX1 EYA1
15 autosomal dominant nonsyndromic deafness 10.2 SIX1 EYA4 EYA1
16 cataract 14, multiple types 10.2 SLC4A8 SLC4A5
17 corneal dystrophy, band-shaped 10.2 SLC4A8 SLC4A5 SLC4A4
18 complex partial epilepsy 10.2 SLC4A8 SLC4A5
19 malignant peripheral nerve sheath tumor 10.2 SIX1 EYA4 EYA3 EYA1
20 renal hypodysplasia/aplasia 1 10.2 SIX5 SIX1 EYA1
21 congenital anomalies of kidney and urinary tract 2 10.2 SIX5 EYA1
22 kidney disease 10.1
23 deafness, autosomal dominant 10 10.1 SIX5 SIX1 EYA4 EYA3 EYA1
24 corneal dystrophy and perceptive deafness 10.1 SLC4A8 SLC4A4
25 cardiomyopathy, dilated, 1j 10.1 RIPPLY3 EYA4 EYA3 EYA1
26 hereditary hearing loss and deafness 10.0 EYA4 EYA1
27 generalized epilepsy with febrile seizures plus 9.9
28 branchiootic syndrome 9.9 SIX5 SIX4 SIX1 NIP7 EYA4 EYA3

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 1:



Diseases related to Branchiootorenal Syndrome 1

Symptoms & Phenotypes for Branchiootorenal Syndrome 1

Human phenotypes related to Branchiootorenal Syndrome 1:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 very rare (1%) HP:0010628
2 microtia 31 very rare (1%) HP:0008551
3 stenosis of the external auditory canal 31 very rare (1%) HP:0000402
4 preauricular pit 31 very rare (1%) HP:0004467
5 cupped ear 31 very rare (1%) HP:0000378
6 mixed hearing impairment 31 very rare (1%) HP:0000410
7 lacrimal duct aplasia 31 very rare (1%) HP:0007925
8 lacrimal duct stenosis 31 very rare (1%) HP:0007678
9 high palate 31 HP:0000218
10 microdontia 31 HP:0000691
11 congenital hip dislocation 31 HP:0001374
12 narrow face 31 HP:0000275
13 vesicoureteral reflux 31 HP:0000076
14 preauricular skin tag 31 HP:0000384
15 lacrimation abnormality 31 HP:0000632
16 long face 31 HP:0000276
17 polycystic kidney dysplasia 31 HP:0000113
18 intestinal malrotation 31 HP:0002566
19 hypoplasia of the cochlea 31 HP:0008586
20 branchial cyst 31 HP:0009796
21 branchial fistula 31 HP:0009795
22 bifid uvula 31 HP:0000193
23 renal agenesis 31 HP:0000104
24 renal malrotation 31 HP:0004712
25 renal dysplasia 31 HP:0000110
26 dilatated internal auditory canal 31 HP:0004458
27 renal steatosis 31 HP:0000799
28 abnormal cerebral morphology 31 HP:0002060
29 euthyroid goiter 31 HP:0009798
30 overbite 31 HP:0011094
31 cholesteatoma 31 HP:0009797
32 incomplete partition of the cochlea type ii 31 HP:0000376
33 abnormal renal collecting system morphology 31 HP:0004742
34 gustatory lacrimation 31 HP:0100274

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Mouth:
cleft palate
bifid uvula
overbite
gustatory lacrimation
high, arched palate

Head And Neck Face:
long, narrow face
facial nerve paralysis (10% of patients)

Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients)

Genitourinary Ureters:
vesicoureteric reflux

Head And Neck Ears:
cochlear malformation
hearing loss (95% of patients)
sensorineural hearing loss (20% of patients)
conductive hearing loss (30% of patients)
mixed hearing loss (50% of patients)
more
Head And Neck Eyes:
lacrimal duct aplasia or stenosis (25% of patients)

Genitourinary Kidneys:
renal anomalies (67% of patients)
renal dysplasia/aplasia
renal collecting system anomalies
polycystic kidneys
abnormal rotation of the kidneys

Clinical features from OMIM®:

113650 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 EYA1 EYA3 EYA4 SCAMP2 SIX1 SIX4

Drugs & Therapeutics for Branchiootorenal Syndrome 1

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 1

Genetic Tests for Branchiootorenal Syndrome 1

Genetic tests related to Branchiootorenal Syndrome 1:

# Genetic test Affiliating Genes
1 Branchiootorenal Syndrome 1 29 EYA1 SIX1
2 Melnick-Fraser Syndrome 29

Anatomical Context for Branchiootorenal Syndrome 1

MalaCards organs/tissues related to Branchiootorenal Syndrome 1:

40
Kidney

Publications for Branchiootorenal Syndrome 1

Articles related to Branchiootorenal Syndrome 1:

(show top 50) (show all 94)
# 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. 57 6
19206155 2009
2
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 57 6
18177466 2008
3
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 6 57
10991693 2000
4
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. 57 6
9020840 1997
5
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. 57
20979191 2010
6
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 57
18220287 2008
7
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6
16691597 2006
8
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 57
15146463 2004
9
Ear and kidney syndromes: molecular versus clinical approach. 57
14717907 2004
10
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. 57
12404110 2002
11
Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. 57
10440824 1999
12
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 6
9603436 1998
13
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 6
9361030 1997
14
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 6
10464653 1997
15
Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. 57
8808282 1996
16
Phenotypic manifestations of branchio-oto-renal syndrome. 57
8533848 1995
17
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. 57
7849713 1994
18
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. 57
8092199 1994
19
Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. 57
8092198 1994
20
Localization of the gene for branchiootorenal syndrome to chromosome 8q. 57
1478663 1992
21
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. 57
1307249 1992
22
A second-generation linkage map of the human genome. 57
1436057 1992
23
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. 57
1415348 1992
24
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 57
1576761 1992
25
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 57
2354548 1990
26
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. 57
3799714 1986
27
Branchio-oto-renal dysplasia in three families. 57
3740720 1986
28
Gustatory lacrimation in association with the branchio-oto-renal syndrome. 57
4006277 1985
29
The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. 57
6846397 1983
30
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? 57
6859100 1983
31
Otological aspects of the earpit-deafness syndrome. 57
6973119 1981
32
The earpits-deafness syndrome. Clinical and genetic aspects. 57
6964893 1980
33
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. 57
7468659 1980
34
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. 57
657583 1978
35
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. 57
263442 1978
36
Severe renal dysgenesis produced by a dominant gene. 57
998578 1976
37
Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. 57
1248162 1976
38
Familial hearing loss associated with branchial fistulas. 6
5365063 1969
39
GNOM-dependent endocytosis maintains polar localisation of the borate exporter BOR1 in Arabidopsis. 61
33443774 2021
40
Involvement of boron transporter BOR1 in growth under low boron and high nitrate conditions in Arabidopsis thaliana. 61
33090485 2020
41
Durvalumab activity in previously treated patients who stopped durvalumab without disease progression. 61
32847985 2020
42
Analysis of Endocytosis and Intracellular Trafficking of Boric Acid/Borate Transport Proteins in Arabidopsis. 61
32632800 2020
43
Boron demanding tissues of Brassica napus express specific sets of functional Nodulin26-like Intrinsic Proteins and BOR1 transporters. 61
31148338 2019
44
Polar Localization of the Borate Exporter BOR1 Requires AP2-Dependent Endocytosis. 61
30710051 2019
45
Two Pathways for Trafficking the Borate Receptor BOR1. 61
30940737 2019
46
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing. 61
30221713 2018
47
Boron-Dependent Translational Suppression of the Borate Exporter BOR1 Contributes to the Avoidance of Boron Toxicity. 61
29728453 2018
48
Adjusting Boron Transport by Two-Step Tuning of Levels of the Efflux Transporter BOR1. 61
29899052 2018
49
Preparing thin cross sections of Arabidopsis roots without embedding. 61
29235975 2017
50
The boron transporter BnaC4.BOR1;1c is critical for inflorescence development and fertility under boron limitation in Brassica napus. 61
28545156 2017

Variations for Branchiootorenal Syndrome 1

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

6 (show top 50) (show all 73)
# 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 SIX1 NM_005982.4(SIX1):c.317T>G (p.Val106Gly) SNV Pathogenic 65696 rs397515560 14:61115591-61115591 14:60648873-60648873
12 SIX1 NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) SNV Pathogenic 65697 rs397515561 14:61115574-61115574 14:60648856-60648856
13 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
14 SIX1 NM_005982.4(SIX1):c.50T>A (p.Val17Glu) SNV Pathogenic 65698 rs397515562 14:61115858-61115858 14:60649140-60649140
15 EYA1 NM_000503.6(EYA1):c.640-15_698del Deletion Pathogenic 459256 rs1554541834 8:72211410-72211483 8:71299175-71299248
16 EYA1 NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) SNV Pathogenic 459254 rs200164773 8:72234477-72234477 8:71322242-71322242
17 EYA1 NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs) Microsatellite Pathogenic 528876 rs1554596461 8:72128957-72128958 8:71216722-71216723
18 EYA1 NM_000503.6(EYA1):c.532del (p.Ala178fs) Deletion Pathogenic 528877 rs1554548840 8:72229811-72229811 8:71317576-71317576
19 EYA1 NC_000008.11:g.(?_71244583)_(71322288_?)del Deletion Pathogenic 528878 8:72156818-72234523 8:71244583-71322288
20 EYA1 NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) SNV Pathogenic 567492 rs1563422304 8:72211426-72211426 8:71299191-71299191
21 EYA1 NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) SNV Pathogenic 429912 rs1131691667 8:72184070-72184070 8:71271835-71271835
22 EYA1 NM_000503.6(EYA1):c.1200-1G>A SNV Pathogenic 578749 rs1563634200 8:72129088-72129088 8:71216853-71216853
23 EYA1 NC_000008.11:g.(?_71199320)_(71356506_?)del Deletion Pathogenic 584228 8:72111555-72268741 8:71199320-71356506
24 EYA1 NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) Deletion Pathogenic 653122 rs1585817892 8:72128932-72128933 8:71216697-71216698
25 EYA1 NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) Deletion Pathogenic 657022 rs1585812463 8:72127903-72127906 8:71215668-71215671
26 EYA1 NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) SNV Pathogenic 807414 rs529483320 8:72211430-72211430 8:71299195-71299195
27 EYA1 NC_000008.11:g.(?_71269720)_(71269843_?)del Deletion Pathogenic 831168 8:72181955-72182078
28 EYA1 NC_000008.11:g.(?_71244583)_(71244712_?)del Deletion Pathogenic 831405 8:72156818-72156947
29 EYA1 NC_000008.11:g.(?_71269720)_(71271917_?)del Deletion Pathogenic 832783 8:72181955-72184152
30 EYA1 NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) SNV Pathogenic 834788 8:72184079-72184079 8:71271844-71271844
31 EYA1 NM_000503.6(EYA1):c.1598-2A>G SNV Pathogenic 837632 8:72123493-72123493 8:71211258-71211258
32 EYA1 NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) SNV Pathogenic 844683 8:72229873-72229873 8:71317638-71317638
33 EYA1 NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) SNV Pathogenic 854280 8:72129213-72129213 8:71216978-71216978
34 EYA1 NM_000503.6(EYA1):c.1050+1G>T SNV Pathogenic 854287 8:72181974-72181974 8:71269739-71269739
35 EYA1 NM_000503.6(EYA1):c.806del (p.Ala269fs) Deletion Pathogenic 856463 8:72211302-72211302 8:71299067-71299067
36 EYA1 NM_000503.6(EYA1):c.1635del (p.Phe545fs) Deletion Pathogenic 945460 8:72123454-72123454 8:71211219-71211219
37 EYA1 NM_000503.6(EYA1):c.1140+1G>T SNV Pathogenic 952495 8:72156837-72156837 8:71244602-71244602
38 EYA1 NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) SNV Pathogenic 957517 8:72229877-72229877 8:71317642-71317642
39 EYA1 NM_000503.6(EYA1):c.929del (p.Asn310fs) Deletion Pathogenic 974520 8:72184030-72184030 8:71271795-71271795
40 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
41 EYA1 NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) Deletion Pathogenic 528874 rs1554615536 8:72182009-72182012 8:71269774-71269777
42 EYA1 NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) SNV Pathogenic 459253 rs1481254965 8:72123405-72123405 8:71211170-71211170
43 EYA1 NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) SNV Pathogenic 522400 rs1554615511 8:72181981-72181981 8:71269746-71269746
44 EYA1 NM_000503.6(EYA1):c.1259del (p.Leu420fs) Deletion Pathogenic 975072 8:72129028-72129028 8:71216793-71216793
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.1460C>A (p.Ser487Ter) SNV Likely pathogenic 812585 rs139717960 8:72127864-72127864 8:71215629-71215629
47 EYA1 NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) SNV Likely pathogenic 417930 rs1060499603 8:72123474-72123474 8:71211239-71211239
48 EYA1 NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) Insertion Likely pathogenic 830006 rs1586244371 8:72211358-72211359 8:71299123-71299124
49 EYA1 NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) SNV Likely pathogenic 48106 rs397517920 8:72111606-72111606 8:71199371-71199371
50 EYA1 NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) SNV Likely pathogenic 644606 rs1585717154 8:72111615-72111615 8:71199380-71199380

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 1:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 EYA1 p.Ser487Pro VAR_005203 rs121909200
2 EYA1 p.Leu505Arg VAR_005204 rs121909201
3 EYA1 p.Gly426Ser VAR_016865 rs121909199
4 EYA1 p.Asp429Gly VAR_016866
5 EYA1 p.Arg440Gln VAR_016867 rs121909196
6 EYA1 p.Leu583Pro VAR_016869 rs397517920
7 EYA1 p.Pro95Ser VAR_064942
8 EYA1 p.Gly140Ser VAR_064943
9 EYA1 p.Glu363Val VAR_064944
10 EYA1 p.Leu514Pro VAR_064945 rs112340154
11 EYA1 p.Tyr527Cys VAR_064946
12 EYA1 p.Met569Thr VAR_064947

Expression for Branchiootorenal Syndrome 1

Search GEO for disease gene expression data for Branchiootorenal Syndrome 1.

Pathways for Branchiootorenal Syndrome 1

GO Terms for Branchiootorenal Syndrome 1

Cellular components related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.92 SIX5 SIX4 SIX1 EYA3

Biological processes related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.16 SIX5 SIX4 SIX1 RIPPLY3 EYA4 EYA3
2 anatomical structure morphogenesis GO:0009653 9.86 SIX4 EYA4 EYA3 EYA1
3 sensory perception of sound GO:0007605 9.85 SIX1 EYA4 EYA1
4 sodium ion transport GO:0006814 9.85 SLC4A8 SLC4A5 SLC4A4 ASIC4
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.82 EYA4 EYA3 EYA1
6 inner ear morphogenesis GO:0042472 9.78 SIX4 SIX1 EYA1
7 embryonic skeletal system morphogenesis GO:0048704 9.77 SIX4 SIX1 EYA1
8 bicarbonate transport GO:0015701 9.76 SLC4A8 SLC4A5 SLC4A4
9 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 EYA4 EYA3 EYA1
10 sodium ion transmembrane transport GO:0035725 9.71 SLC4A8 SLC4A5 SLC4A4 ASIC4
11 inorganic anion transport GO:0015698 9.68 SLC4A5 SLC4A4
12 cochlea morphogenesis GO:0090103 9.67 SIX1 EYA1
13 middle ear morphogenesis GO:0042474 9.67 SIX1 EYA1
14 post-Golgi vesicle-mediated transport GO:0006892 9.66 SCAMP2 SCAMP1
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.66 SIX4 SIX1
16 neuron fate specification GO:0048665 9.65 SIX1 EYA1
17 aorta morphogenesis GO:0035909 9.65 SIX1 EYA1
18 positive regulation of DNA repair GO:0045739 9.65 EYA4 EYA3 EYA1
19 regulation of epithelial cell proliferation GO:0050678 9.64 SIX4 SIX1
20 generation of neurons GO:0048699 9.64 SIX4 SIX1
21 tongue development GO:0043586 9.63 SIX4 SIX1
22 myoblast migration GO:0051451 9.63 SIX4 SIX1
23 regulation of intracellular pH GO:0051453 9.63 SLC4A8 SLC4A5 SLC4A4
24 metanephric mesenchyme development GO:0072075 9.62 SIX4 SIX1
25 otic vesicle development GO:0071599 9.61 SIX1 EYA1
26 anion transport GO:0006820 9.61 SLC4A8 SLC4A5 SLC4A4
27 regulation of synaptic growth at neuromuscular junction GO:0008582 9.59 SIX4 SIX1
28 positive regulation of ureteric bud formation GO:0072107 9.58 SIX4 SIX1
29 trigeminal ganglion development GO:0061551 9.57 SIX4 SIX1
30 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.52 SIX1 EYA1
31 myotome development GO:0061055 9.51 SIX4 SIX1
32 olfactory placode formation GO:0030910 9.49 SIX4 SIX1
33 ion homeostasis GO:0050801 9.43 SLC4A8 SLC4A5 SLC4A4
34 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.37 SIX4 SIX1
35 histone dephosphorylation GO:0016576 9.33 EYA4 EYA3 EYA1
36 fungiform papilla morphogenesis GO:0061197 9.32 SIX4 SIX1
37 pharyngeal system development GO:0060037 9.26 SIX4 SIX1 RIPPLY3 EYA1
38 anatomical structure development GO:0048856 9.02 SIX4 SIX1 EYA4 EYA3 EYA1

Molecular functions related to Branchiootorenal Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.58 EYA4 EYA3 EYA1
2 protein tyrosine phosphatase activity GO:0004725 9.5 EYA4 EYA3 EYA1
3 anion:anion antiporter activity GO:0015301 9.37 SLC4A8 SLC4A5
4 anion transmembrane transporter activity GO:0008509 9.33 SLC4A8 SLC4A5 SLC4A4
5 sodium ion transmembrane transporter activity GO:0015081 9.26 SLC4A8 ASIC4
6 inorganic anion exchanger activity GO:0005452 9.13 SLC4A8 SLC4A5 SLC4A4
7 sodium:bicarbonate symporter activity GO:0008510 8.8 SLC4A8 SLC4A5 SLC4A4

Sources for Branchiootorenal Syndrome 1

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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