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 72 29 6 15
Melnick-Fraser Syndrome 57 72 29 6
Bor1 57 12 72
Branchiootorenal Syndrome, with/without Cataract, Type 1 39
Branchiootorenal Syndrome 1, with or Without Cataracts 57
Branchio-Oto-Renal Syndrome Type 1 72
Branchio-Oto-Renal Dysplasia 1 72
Branchiootorenal Dysplasia 1 72
Branchio-Oto-Renal Syndrome 70
Branchiootorenal Dysplasia 57
Bor Syndrome 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-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 20-May-2021)

MalaCards based summary : Branchiootorenal Syndrome 1, also known as melnick-fraser syndrome, is related to branchiootorenal syndrome 2 and branchiootorenal syndrome. 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 : 72 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 29)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 2 30.4 SIX5 SIX1 EYA1
2 branchiootorenal syndrome 29.8 VTA1 TJP2 TFAP2A-AS1 TFAP2A SLC4A5 SLC4A4
3 branchiootorenal/branchiootic syndrome 11.1
4 branchiootic syndrome 1 11.0
5 fraser syndrome 1 10.5
6 eustachian tube disease 10.3 SIX1 EYA1
7 branchiootorenal spectrum disorder 10.3 SIX5 SIX1 EYA1
8 lacrimal duct obstruction 10.3 TFAP2A SIX5 EYA1
9 patulous eustachian tube 10.3 SIX1 EYA1
10 papillorenal syndrome 10.3 SIX5 SIX1 EYA1
11 branchiooculofacial syndrome 10.3 TFAP2A-AS1 TFAP2A EYA1
12 townes-brocks syndrome 10.3 SIX5 SIX1 EYA1
13 intestinal impaction 10.3 SLC4A5 SLC4A4
14 vesicoureteral reflux 1 10.2 SIX5 SIX1 EYA1
15 cakut 10.2 SIX5 SIX1 EYA1
16 ear malformation 10.2 TFAP2A EYA1
17 nonsyndromic hearing loss 10.2 TJP2 SIX1 EYA4
18 autosomal dominant nonsyndromic deafness 10.2 TJP2 SIX1 EYA4 EYA1
19 cataract 14, multiple types 10.1 SLC4A8 SLC4A5
20 corneal dystrophy, band-shaped 10.1 SLC4A8 SLC4A5 SLC4A4
21 malignant peripheral nerve sheath tumor 10.1 SIX1 EYA4 EYA3 EYA1
22 kidney disease 10.1
23 complex partial epilepsy 10.1 SLC4A8 SLC4A5
24 cardiomyopathy, dilated, 1j 10.1 SIX4 EYA4 EYA3 EYA1
25 deafness, autosomal dominant 10 10.1 SIX5 SIX1 EYA4 EYA3 EYA1
26 renal hypodysplasia/aplasia 1 10.1 SIX5 SIX1 EYA1
27 congenital anomalies of kidney and urinary tract 2 10.0 SIX5 EYA1
28 generalized epilepsy with febrile seizures plus 10.0
29 branchiootic syndrome 9.8 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 20-May-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 20-May-2021)

MGI Mouse Phenotypes related to Branchiootorenal Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 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 65)
# 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
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 57 6
18220287 2008
3
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 6 57
18177466 2008
4
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 57 6
15146463 2004
5
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 57 6
10991693 2000
6
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
7
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
8
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution. 6
30937553 2019
9
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. 6
29500469 2018
10
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 6
28832562 2017
11
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 6
27657687 2017
12
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 6
26969326 2016
13
BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein. 6
24489909 2014
14
Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. 6
23840632 2013
15
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
16
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. 6
22447252 2012
17
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. 6
21280147 2011
18
Detection of clinically relevant exonic copy-number changes by array CGH. 6
20848651 2010
19
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. 57
20979191 2010
20
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 6
19951260 2010
21
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6
16691597 2006
22
Ear and kidney syndromes: molecular versus clinical approach. 57
14717907 2004
23
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. 57
12404110 2002
24
A family affected by branchio-oto syndrome with EYA1 mutations. 6
11683347 2001
25
Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. 57
10440824 1999
26
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 6
9603436 1998
27
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 6
9361030 1997
28
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 6
10464653 1997
29
Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. 57
8808282 1996
30
Phenotypic manifestations of branchio-oto-renal syndrome. 57
8533848 1995
31
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
32
Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. 57
8092198 1994
33
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. 57
8092199 1994
34
Localization of the gene for branchiootorenal syndrome to chromosome 8q. 57
1478663 1992
35
A second-generation linkage map of the human genome. 57
1436057 1992
36
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family. 57
1307249 1992
37
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. 57
1415348 1992
38
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. 57
1576761 1992
39
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. 57
2354548 1990
40
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. 6
2773990 1989
41
Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. 57
3799714 1986
42
Branchio-oto-renal dysplasia in three families. 57
3740720 1986
43
Gustatory lacrimation in association with the branchio-oto-renal syndrome. 57
4006277 1985
44
The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. 57
6846397 1983
45
Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome? 57
6859100 1983
46
Otological aspects of the earpit-deafness syndrome. 57
6973119 1981
47
The earpits-deafness syndrome. Clinical and genetic aspects. 57
6964893 1980
48
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. 57
7468659 1980
49
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. 57
657583 1978
50
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. 57
263442 1978

Variations for Branchiootorenal Syndrome 1

ClinVar genetic disease variations for Branchiootorenal Syndrome 1:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) SNV Pathogenic 7929 rs121909195 GRCh37: 8:72184037-72184037
GRCh38: 8:71271802-71271802
2 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC Indel Pathogenic 7930 GRCh37:
GRCh38:
3 EYA1 EYA1, ALU INS, EX10 Insertion Pathogenic 7933 GRCh37:
GRCh38:
4 EYA1 NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) Deletion Pathogenic 7934 rs606231355 GRCh37: 8:72123391-72123394
GRCh38: 8:71211156-71211159
5 EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) SNV Pathogenic 7935 rs121909196 GRCh37: 8:72128968-72128968
GRCh38: 8:71216733-71216733
6 EYA1 EYA1, 1-BP INS, 387T Insertion Pathogenic 7939 GRCh37:
GRCh38:
7 EYA1 NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) SNV Pathogenic 7940 rs121909200 GRCh37: 8:72127865-72127865
GRCh38: 8:71215630-71215630
8 EYA1 NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) SNV Pathogenic 7941 rs121909201 GRCh37: 8:72127705-72127705
GRCh38: 8:71215470-71215470
9 EYA1 NM_000503.6(EYA1):c.966+5G>A SNV Pathogenic 7945 rs606231357 GRCh37: 8:72183988-72183988
GRCh38: 8:71271753-71271753
10 SIX1 NM_005982.4(SIX1):c.317T>G (p.Val106Gly) SNV Pathogenic 65696 rs397515560 GRCh37: 14:61115591-61115591
GRCh38: 14:60648873-60648873
11 SIX1 NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) SNV Pathogenic 65697 rs397515561 GRCh37: 14:61115574-61115574
GRCh38: 14:60648856-60648856
12 SIX1 NM_005982.4(SIX1):c.50T>A (p.Val17Glu) SNV Pathogenic 65698 rs397515562 GRCh37: 14:61115858-61115858
GRCh38: 14:60649140-60649140
13 EYA1 NC_000008.11:g.(?_71269720)_(71269843_?)del Deletion Pathogenic 831168 GRCh37: 8:72181955-72182078
GRCh38:
14 EYA1 NC_000008.11:g.(?_71244583)_(71244712_?)del Deletion Pathogenic 831405 GRCh37: 8:72156818-72156947
GRCh38:
15 EYA1 NC_000008.11:g.(?_71269720)_(71271917_?)del Deletion Pathogenic 832783 GRCh37: 8:72181955-72184152
GRCh38:
16 EYA1 NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) SNV Pathogenic 834788 GRCh37: 8:72184079-72184079
GRCh38: 8:71271844-71271844
17 EYA1 NM_000503.6(EYA1):c.1598-2A>G SNV Pathogenic 837632 GRCh37: 8:72123493-72123493
GRCh38: 8:71211258-71211258
18 EYA1 NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) SNV Pathogenic 807414 rs529483320 GRCh37: 8:72211430-72211430
GRCh38: 8:71299195-71299195
19 EYA1 NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) SNV Pathogenic 429912 rs1131691667 GRCh37: 8:72184070-72184070
GRCh38: 8:71271835-71271835
20 EYA1 NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) SNV Pathogenic 459253 rs1481254965 GRCh37: 8:72123405-72123405
GRCh38: 8:71211170-71211170
21 EYA1 NM_000503.6(EYA1):c.640-15_698del Deletion Pathogenic 459256 rs1554541834 GRCh37: 8:72211410-72211483
GRCh38: 8:71299175-71299248
22 EYA1 NM_000503.6(EYA1):c.929del (p.Asn310fs) Deletion Pathogenic 974520 GRCh37: 8:72184030-72184030
GRCh38: 8:71271795-71271795
23 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
24 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
25 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) SNV Pathogenic 7943 rs121909202 GRCh37: 8:72156897-72156897
GRCh38: 8:71244662-71244662
26 EYA1 NM_000503.5:c.557del Deletion Pathogenic 988191 GRCh37: 8:72211955-72211955
GRCh38: 8:71299720-71299720
27 EYA1 NM_000503.6(EYA1):c.1259del (p.Leu420fs) Deletion Pathogenic 975072 GRCh37: 8:72129028-72129028
GRCh38: 8:71216793-71216793
28 EYA1 NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) SNV Pathogenic 957904 GRCh37: 8:72127891-72127891
GRCh38: 8:71215656-71215656
29 EYA1 NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) SNV Pathogenic 957517 GRCh37: 8:72229877-72229877
GRCh38: 8:71317642-71317642
30 EYA1 NM_000503.6(EYA1):c.1140+1G>T SNV Pathogenic 952495 GRCh37: 8:72156837-72156837
GRCh38: 8:71244602-71244602
31 EYA1 NM_000503.6(EYA1):c.1635del (p.Phe545fs) Deletion Pathogenic 945460 GRCh37: 8:72123454-72123454
GRCh38: 8:71211219-71211219
32 EYA1 NM_000503.6(EYA1):c.806del (p.Ala269fs) Deletion Pathogenic 856463 GRCh37: 8:72211302-72211302
GRCh38: 8:71299067-71299067
33 EYA1 NM_000503.6(EYA1):c.1050+1G>T SNV Pathogenic 854287 GRCh37: 8:72181974-72181974
GRCh38: 8:71269739-71269739
34 EYA1 NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) SNV Pathogenic 854280 GRCh37: 8:72129213-72129213
GRCh38: 8:71216978-71216978
35 EYA1 NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) SNV Pathogenic 844683 GRCh37: 8:72229873-72229873
GRCh38: 8:71317638-71317638
36 EYA1 NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) Deletion Pathogenic 657022 rs1585812463 GRCh37: 8:72127903-72127906
GRCh38: 8:71215668-71215671
37 EYA1 NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) Deletion Pathogenic 653122 rs1585817892 GRCh37: 8:72128932-72128933
GRCh38: 8:71216697-71216698
38 EYA1 NC_000008.11:g.(?_71199320)_(71356506_?)del Deletion Pathogenic 584228 GRCh37: 8:72111555-72268741
GRCh38: 8:71199320-71356506
39 EYA1 NM_000503.6(EYA1):c.1200-1G>A SNV Pathogenic 578749 rs1563634200 GRCh37: 8:72129088-72129088
GRCh38: 8:71216853-71216853
40 EYA1 NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) SNV Pathogenic 567492 rs1563422304 GRCh37: 8:72211426-72211426
GRCh38: 8:71299191-71299191
41 EYA1 NC_000008.11:g.(?_71244583)_(71322288_?)del Deletion Pathogenic 528878 GRCh37: 8:72156818-72234523
GRCh38: 8:71244583-71322288
42 EYA1 NM_000503.6(EYA1):c.532del (p.Ala178fs) Deletion Pathogenic 528877 rs1554548840 GRCh37: 8:72229811-72229811
GRCh38: 8:71317576-71317576
43 EYA1 NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs) Microsatellite Pathogenic 528876 rs1554596461 GRCh37: 8:72128957-72128958
GRCh38: 8:71216722-71216723
44 EYA1 NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) Deletion Pathogenic 528874 rs1554615536 GRCh37: 8:72182009-72182012
GRCh38: 8:71269774-71269777
45 EYA1 NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) SNV Pathogenic 459254 rs200164773 GRCh37: 8:72234477-72234477
GRCh38: 8:71322242-71322242
46 EYA1 NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) SNV Pathogenic 522400 rs1554615511 GRCh37: 8:72181981-72181981
GRCh38: 8:71269746-71269746
47 EYA1 NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) SNV Likely pathogenic 644606 rs1585717154 GRCh37: 8:72111615-72111615
GRCh38: 8:71199380-71199380
48 EYA1 NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) Insertion Likely pathogenic 830006 rs1586244371 GRCh37: 8:72211358-72211359
GRCh38: 8:71299123-71299124
49 TJP2 NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) SNV Likely pathogenic 805838 rs139314808 GRCh37: 9:71852823-71852823
GRCh38: 9:69237907-69237907
50 TFAP2A-AS1 , TFAP2A NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter) SNV Likely pathogenic 1065052 GRCh37: 6:10415210-10415210
GRCh38: 6:10414977-10414977

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

72 (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 39)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.15 SIX5 SIX4 SIX1 EYA4 EYA3 EYA1
2 sensory perception of sound GO:0007605 9.9 TFAP2A SIX1 EYA4 EYA1
3 anatomical structure morphogenesis GO:0009653 9.88 SIX4 EYA4 EYA3 EYA1
4 sodium ion transport GO:0006814 9.87 SLC4A8 SLC4A5 SLC4A4 ASIC4
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.83 EYA4 EYA3 EYA1
6 embryonic skeletal system morphogenesis GO:0048704 9.79 SIX4 SIX1 EYA1
7 bicarbonate transport GO:0015701 9.78 SLC4A8 SLC4A5 SLC4A4
8 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.73 EYA4 EYA3 EYA1
9 sodium ion transmembrane transport GO:0035725 9.73 SLC4A8 SLC4A5 SLC4A4 ASIC4
10 embryonic cranial skeleton morphogenesis GO:0048701 9.69 TFAP2A SIX4 SIX1
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 9.67 SCAMP2 SCAMP1
15 positive regulation of DNA repair GO:0045739 9.67 EYA4 EYA3 EYA1
16 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.66 SIX4 SIX1
17 neuron fate specification GO:0048665 9.66 SIX1 EYA1
18 aorta morphogenesis GO:0035909 9.65 SIX1 EYA1
19 regulation of epithelial cell proliferation GO:0050678 9.65 SIX4 SIX1
20 regulation of intracellular pH GO:0051453 9.65 SLC4A8 SLC4A5 SLC4A4
21 generation of neurons GO:0048699 9.64 SIX4 SIX1
22 tongue development GO:0043586 9.64 SIX4 SIX1
23 myoblast migration GO:0051451 9.63 SIX4 SIX1
24 metanephric mesenchyme development GO:0072075 9.63 SIX4 SIX1
25 anion transport GO:0006820 9.63 SLC4A8 SLC4A5 SLC4A4
26 otic vesicle development GO:0071599 9.62 SIX1 EYA1
27 regulation of synaptic growth at neuromuscular junction GO:0008582 9.61 SIX4 SIX1
28 positive regulation of ureteric bud formation GO:0072107 9.59 SIX4 SIX1
29 trigeminal ganglion development GO:0061551 9.58 SIX4 SIX1
30 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.55 SIX1 EYA1
31 myotome development GO:0061055 9.54 SIX4 SIX1
32 olfactory placode formation GO:0030910 9.52 SIX4 SIX1
33 ion homeostasis GO:0050801 9.5 SLC4A8 SLC4A5 SLC4A4
34 inner ear morphogenesis GO:0042472 9.46 TFAP2A SIX4 SIX1 EYA1
35 pharyngeal system development GO:0060037 9.43 SIX4 SIX1 EYA1
36 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.4 SIX4 SIX1
37 fungiform papilla morphogenesis GO:0061197 9.37 SIX4 SIX1
38 histone dephosphorylation GO:0016576 9.13 EYA4 EYA3 EYA1
39 anatomical structure development GO:0048856 9.1 TFAP2A 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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