MCID: BRN121
MIFTS: 25

Branchiootorenal/branchiootic Syndrome

Categories: Nephrological diseases

Aliases & Classifications for Branchiootorenal/branchiootic Syndrome

MalaCards integrated aliases for Branchiootorenal/branchiootic Syndrome:

Name: Branchiootorenal/branchiootic Syndrome 24
Branchio-Oto-Renal Syndrome 24 69
Branchiootorenal Spectrum Disorders 24
Branchio-Otorenal Dysplasia 24
Branchiootorenal Dysplasia 24
Branchio-Otorenal Syndrome 24
Branchiootorenal Syndrome 24
Melnick-Fraser Syndrome 24
Branchiootic Syndrome 1 69
Branchiootic Syndrome 24
Bor Syndrome 24
Bo Syndrome 24
Bos 24
Bor 24

Classifications:



External Ids:

UMLS 69 C1865143

Summaries for Branchiootorenal/branchiootic Syndrome

Genetics Home Reference : 24 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).

MalaCards based summary : Branchiootorenal/branchiootic Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome and branchiootic syndrome. An important gene associated with Branchiootorenal/branchiootic Syndrome is SIX1 (SIX Homeobox 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. The drug Boron has been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Branchiootorenal/branchiootic Syndrome

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



Diseases related to Branchiootorenal/branchiootic Syndrome

Symptoms & Phenotypes for Branchiootorenal/branchiootic Syndrome

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.8 EYA1 SIX1
2 Increased Nanog expression GR00371-A-5 8.8 EYA1

Drugs & Therapeutics for Branchiootorenal/branchiootic Syndrome

Drugs for Branchiootorenal/branchiootic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Boron Approved 7440-42-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relation of Blood-boron Levels With Body Mass Index Unknown status NCT01400061

Search NIH Clinical Center for Branchiootorenal/branchiootic Syndrome

Genetic Tests for Branchiootorenal/branchiootic Syndrome

Anatomical Context for Branchiootorenal/branchiootic Syndrome

MalaCards organs/tissues related to Branchiootorenal/branchiootic Syndrome:

38
Kidney

Publications for Branchiootorenal/branchiootic Syndrome

Articles related to Branchiootorenal/branchiootic Syndrome:

(show all 49)
# Title Authors Year
1
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505 )
2017
2
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072 )
2017
3
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )
2017
4
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701 )
2014
5
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. ( 25135225 )
2014
6
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. ( 23506628 )
2013
7
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. ( 23851940 )
2013
8
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. ( 22447252 )
2012
9
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869 )
2011
10
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. ( 21280147 )
2011
11
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917 )
2010
12
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191 )
2010
13
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260 )
2010
14
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527 )
2010
15
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155 )
2009
16
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. ( 19667416 )
2009
17
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856 )
2009
18
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. ( 19389353 )
2009
19
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ( 18220287 )
2008
20
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911 )
2008
21
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ( 18177466 )
2008
22
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085 )
2007
23
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. ( 17364338 )
2007
24
Branchio-oto-renal syndrome. ( 17238186 )
2007
25
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. ( 17637804 )
2007
26
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623 )
2007
27
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546 )
2006
28
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499 )
2006
29
Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. ( 15802522 )
2005
30
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. ( 15684871 )
2004
31
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. ( 15491396 )
2004
32
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. ( 15141091 )
2004
33
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. ( 15146463 )
2004
34
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. ( 15492887 )
2004
35
Branchio-oto-renal syndrome. ( 14696767 )
2003
36
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. ( 12884440 )
2003
37
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. ( 11950062 )
2002
38
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. ( 11568672 )
2001
39
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. ( 11465802 )
2001
40
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. ( 10767004 )
2000
41
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. ( 10928856 )
2000
42
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. ( 10762556 )
2000
43
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. ( 10429368 )
1999
44
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ( 9557405 )
1998
45
Branchio-oto-renal syndrome. ( 9777487 )
1998
46
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ( 9603436 )
1998
47
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ( 10464653 )
1997
48
The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. ( 8661098 )
1996
49
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. ( 8558563 )
1995

Variations for Branchiootorenal/branchiootic Syndrome

ClinVar genetic disease variations for Branchiootorenal/branchiootic Syndrome:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh37 Chromosome 8, 72184037: 72184037
2 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC indel Pathogenic
3 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
4 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
5 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
6 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
7 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
8 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
9 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
10 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
11 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
12 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
13 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
14 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
15 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
16 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
17 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
18 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
19 EYA1 NC_000008.11: g.(?_71199264)_(71356523_?)del deletion Pathogenic GRCh37 Chromosome 8, 72111499: 72268758
20 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
21 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh37 Chromosome 8, 72229915: 72229915
22 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
23 EYA1 EYA1, ALU INS, EX10 insertion Pathogenic
24 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh37 Chromosome 8, 72109607: 72123547
25 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh38 Chromosome 8, 71244653: 71244653
26 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh38 Chromosome 8, 71271828: 71271828
27 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh38 Chromosome 8, 71321746: 71321756
28 EYA1 NM_000503.5(EYA1): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 72123405: 72123405
29 EYA1 NM_000503.5(EYA1): c.229C> T (p.Arg77Ter) single nucleotide variant Pathogenic rs200164773 GRCh38 Chromosome 8, 71322242: 71322242
30 EYA1 NM_000503.5(EYA1): c.640-15_698del deletion Pathogenic GRCh37 Chromosome 8, 72211410: 72211483

Expression for Branchiootorenal/branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootorenal/branchiootic Syndrome.

Pathways for Branchiootorenal/branchiootic Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.89 EYA1 SIX1

GO Terms for Branchiootorenal/branchiootic Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.57 EYA1 SIX1
2 sensory perception of sound GO:0007605 9.56 EYA1 SIX1
3 inner ear morphogenesis GO:0042472 9.55 EYA1 SIX1
4 pattern specification process GO:0007389 9.54 EYA1 SIX1
5 outflow tract morphogenesis GO:0003151 9.52 EYA1 SIX1
6 embryonic skeletal system morphogenesis GO:0048704 9.51 EYA1 SIX1
7 ureteric bud development GO:0001657 9.49 EYA1 SIX1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.48 EYA1 SIX1
9 regulation of neuron differentiation GO:0045664 9.46 EYA1 SIX1
10 cochlea morphogenesis GO:0090103 9.43 EYA1 SIX1
11 middle ear morphogenesis GO:0042474 9.4 EYA1 SIX1
12 pharyngeal system development GO:0060037 9.37 EYA1 SIX1
13 neuron fate specification GO:0048665 9.32 EYA1 SIX1
14 anatomical structure development GO:0048856 9.26 EYA1 SIX1
15 aorta morphogenesis GO:0035909 9.16 EYA1 SIX1
16 otic vesicle development GO:0071599 8.96 EYA1 SIX1
17 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

Sources for Branchiootorenal/branchiootic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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