MCID: BRN006
MIFTS: 44

Branchiootorenal Syndrome

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

Aliases & Classifications for Branchiootorenal Syndrome

MalaCards integrated aliases for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 12 49 55 14
Branchio-Oto-Renal Syndrome 12 72 41 69
Bor Syndrome 49 55 51
Branchiootorenal Dysplasia 12 49
Melnick-Fraser Syndrome 12 49
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
bor syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14702
MeSH 41 D019280
NCIt 46 C98983
SNOMED-CT 64 205806009 290006
Orphanet 55 ORPHA107
MESH via Orphanet 42 D019280
UMLS via Orphanet 70 C0265234
ICD10 via Orphanet 33 Q87.8
UMLS 69 C0265234

Summaries for Branchiootorenal Syndrome

NIH Rare Diseases : 49 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. Last updated: 2/28/2011

MalaCards based summary : Branchiootorenal Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal syndrome 1 and branchiootorenal/branchiootic syndrome, and has symptoms including ureteropelvic junction obstruction, renal insufficiency and cleft palate. An important gene associated with Branchiootorenal Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drug Boron has been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Wikipedia : 72 Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an... more...

Related Diseases for Branchiootorenal Syndrome

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:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ureteropelvic junction obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0000074
2 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
3 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
4 retrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000278
5 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
6 preauricular skin tag 55 31 frequent (33%) Frequent (79-30%) HP:0000384
7 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
8 renal hypoplasia/aplasia 55 31 frequent (33%) Frequent (79-30%) HP:0008678
9 enlarged cochlear aqueduct 55 31 frequent (33%) Frequent (79-30%) HP:0011388
10 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
11 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
12 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
13 stenosis of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000402
14 atresia of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000413
15 abnormality of the middle ear ossicles 55 31 frequent (33%) Frequent (79-30%) HP:0004452
16 hypoplasia of the cochlea 55 31 frequent (33%) Frequent (79-30%) HP:0008586
17 branchial cyst 55 31 frequent (33%) Frequent (79-30%) HP:0009796
18 facial palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0010628
19 abnormality of the lacrimal duct 55 Occasional (29-5%)
20 abnormal lacrimal duct morphology 31 occasional (7.5%) HP:0011481

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.92 EYA1 OTX2 SIX1
2 Increased Nanog expression GR00371-A-5 8.92 EYA1

MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.05 SIX1 EYA1 HOXA2 HS6ST1 OTX2 PAX2
2 cellular MP:0005384 10.04 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
3 embryo MP:0005380 10 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
4 endocrine/exocrine gland MP:0005379 9.98 EYA1 HS6ST1 OTX2 PAX2 SIX1 SIX5
5 mortality/aging MP:0010768 9.97 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
6 digestive/alimentary MP:0005381 9.88 EYA1 HOXA2 OTX2 SALL1 SIX1
7 hearing/vestibular/ear MP:0005377 9.88 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
8 nervous system MP:0003631 9.86 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
9 muscle MP:0005369 9.72 EYA1 HOXA2 OTX2 SIX1 SIX5
10 respiratory system MP:0005388 9.55 EYA1 HOXA2 HS6ST1 OTX2 SIX1
11 skeleton MP:0005390 9.43 EYA1 HOXA2 HS6ST1 OTX2 SALL1 SIX1
12 vision/eye MP:0005391 9.17 EYA1 HS6ST1 OTX2 PAX2 SIX1 SIX5

Drugs & Therapeutics for Branchiootorenal Syndrome

Drugs for Branchiootorenal 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 Syndrome

Cochrane evidence based reviews: branchio-oto-renal syndrome

Genetic Tests for Branchiootorenal Syndrome

Anatomical Context for Branchiootorenal Syndrome

MalaCards organs/tissues related to Branchiootorenal Syndrome:

38
Kidney, Skin

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

# Title Authors Year
1
Branchiootorenal syndrome with skeletal defects: a novel association in a Mexican child. ( 25380322 )
2014
2
A different type of branchial fistula as part of a branchiootorenal syndrome. ( 22325402 )
2012
3
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. ( 19302870 )
2009
4
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. ( 18666230 )
2008
5
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. ( 8092199 )
1994
6
Localization of the gene for branchiootorenal syndrome to chromosome 8q. ( 1478663 )
1992
7
The search for branchiootorenal syndrome on chromosomes 1 and 8. ( 1952608 )
1991

Variations for Branchiootorenal Syndrome

ClinVar genetic disease variations for Branchiootorenal 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 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
4 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
5 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
6 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
7 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
8 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
9 EYA1 NM_000503.5(EYA1): c.966+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
10 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
11 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
12 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
13 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh37 Chromosome 8, 72127640: 72127640
14 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
15 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh37 Chromosome 8, 72111606: 72111606
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, ALU INS, EX10 insertion Pathogenic
23 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh37 Chromosome 8, 72109607: 72123547
24 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh38 Chromosome 8, 71244653: 71244653
25 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh38 Chromosome 8, 71271828: 71271828
26 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh38 Chromosome 8, 71321746: 71321756
27 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh37 Chromosome 8, 72123474: 72123474
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

Copy number variations for Branchiootorenal Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 242443 8 72305679 72332204 Deletion EYA1 Branchiootorenal syndrome

Expression for Branchiootorenal Syndrome

Search GEO for disease gene expression data for Branchiootorenal Syndrome.

Pathways for Branchiootorenal Syndrome

GO Terms for Branchiootorenal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.62 EYA1 PAX2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
2 transcription by RNA polymerase II GO:0006366 9.91 OTX2 PAX2 SIX1 SIX6
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 EYA1 OTX2 PAX2 SALL1 SIX1
4 multicellular organism development GO:0007275 9.7 EYA1 HOXA2 OTX2 PAX2 SIX1 SIX5
5 positive regulation of epithelial cell proliferation GO:0050679 9.64 EYA1 PAX2
6 neurogenesis GO:0022008 9.64 SALL1 SIX1
7 pattern specification process GO:0007389 9.63 EYA1 SIX1
8 outflow tract morphogenesis GO:0003151 9.63 EYA1 SIX1
9 inner ear morphogenesis GO:0042472 9.63 EYA1 PAX2 SIX1
10 embryonic skeletal system morphogenesis GO:0048704 9.62 EYA1 SIX1
11 regulation of neuron differentiation GO:0045664 9.61 EYA1 SIX1
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.6 PAX2 SIX1
13 middle ear morphogenesis GO:0042474 9.59 EYA1 SIX1
14 pharyngeal system development GO:0060037 9.58 EYA1 SIX1
15 neuron fate specification GO:0048665 9.58 EYA1 SIX1
16 anatomical structure development GO:0048856 9.57 EYA1 SIX1
17 aorta morphogenesis GO:0035909 9.56 EYA1 SIX1
18 animal organ development GO:0048513 9.55 PAX2 SIX1
19 outer ear morphogenesis GO:0042473 9.54 EYA1 SALL1
20 metanephric mesenchyme development GO:0072075 9.52 PAX2 SIX1
21 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.51 PAX2 SALL1
22 ureteric bud development GO:0001657 9.5 EYA1 SALL1 SIX1
23 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 EYA1 OTX2 PAX2 SALL1 SIX1 SIX5
24 otic vesicle development GO:0071599 9.49 EYA1 SIX1
25 mesodermal cell fate specification GO:0007501 9.43 EYA1 PAX2
26 cochlea morphogenesis GO:0090103 9.43 EYA1 PAX2 SIX1
27 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.4 EYA1 SIX1
28 branching involved in ureteric bud morphogenesis GO:0001658 8.92 EYA1 PAX2 SALL1 SIX1
29 transcription, DNA-templated GO:0006351 10.09 EYA1 HOXA2 PAX2 SALL1 SIX1 SIX5

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 OTX2 PAX2 SALL1 SIX1 SIX5 SIX6
2 transcription regulatory region DNA binding GO:0044212 9.43 PAX2 SALL1 SIX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 OTX2 SALL1 SIX1 SIX5
4 sequence-specific DNA binding GO:0043565 9.02 HOXA2 OTX2 SALL1 SIX1 SIX5

Sources for Branchiootorenal 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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