MCID: BRN006
MIFTS: 40

Branchiootorenal Syndrome

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

Aliases & Classifications for Branchiootorenal Syndrome

MalaCards integrated aliases for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 12 50 56 14
Branchio-Oto-Renal Syndrome 12 42 69
Bor Syndrome 50 56 52
Branchiootorenal Dysplasia 12 50
Melnick-Fraser Syndrome 12 50
Branchio-Otorenal Dysplasia 12
Branchio Oto Renal Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
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 42 D019280
NCIt 47 C98983
SNOMED-CT 64 205806009 290006
Orphanet 56 ORPHA107
MESH via Orphanet 43 D019280
UMLS via Orphanet 70 C0265234
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0265234

Summaries for Branchiootorenal Syndrome

NIH Rare Diseases : 50 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 branchiootic syndrome 1 and branchiootorenal syndrome 2, and has symptoms including cleft palate, retrognathia and hydronephrosis. 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 cardiovascular system

Related Diseases for Branchiootorenal Syndrome

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 2 Branchiootorenal Spectrum Disorders
Eya1-Related Branchiootorenal Spectrum Disorders Six1-Related Branchiootorenal Spectrum Disorders
Six5-Related Branchiootorenal Spectrum Disorders

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

(show all 29)
id Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 32.2 EYA1 SIX1
2 branchiootorenal syndrome 2 12.1
3 branchiootorenal syndrome 1, with or without cataracts 12.1
4 branchiootic syndrome 3 10.8
5 branchiootorenal spectrum disorders 10.8
6 eya1-related branchiootorenal spectrum disorders 10.8
7 six5-related branchiootorenal spectrum disorders 10.8
8 branchiootorenal/branchiootic syndrome 10.8
9 catsper-related male infertility 10.5 EYA1 SIX5
10 combined pituitary hormone deficiency 10.5 EYA1 SIX1
11 optic disc anomalies with retinal and/or macular dystrophy 10.5 EYA1 SIX1
12 auriculocondylar syndrome 3 10.4 EYA1 SIX5
13 holoprosencephaly 2 10.4 SIX1 SIX6
14 spinocerebellar ataxia, autosomal recessive 17 10.3 EYA1 PAX2
15 renal tubular acidosis, proximal, with ocular abnormalities 10.2 EYA1 SIX5
16 anal spasm 10.2 OTX2 PAX2
17 amenorrhea 10.2 EYA1 SIX1 SIX5
18 apoa1-related familial visceral amyloidosis 10.2 OTX2 SIX6
19 non-syndromic intellectual disability 10.1 EYA1 SALL1
20 cardiomyopathy, dilated, 2b 10.0 OTX2 PAX2
21 xanthinuria 9.8 EYA1 SIX1 SIX5 SIX6
22 congenital bilateral megacalycosis 9.8 PAX2 SALL1
23 cardiomyopathy, dilated, 1j 9.8 EYA1 PAX2 SIX1 SIX5
24 chronic ulcer of skin 9.6 HOXA2 TAP1
25 kagami-ogata syndrome 9.6 HOXA2 OTX2 SALL1
26 pseudohypoparathyroidism ia 9.6 PAX2 SALL1
27 renal tubular dysgenesis, ren-related 9.6 EYA1 PAX2 SALL1 SIX1
28 cataract 30, pulverulent 8.6 EYA1 HOXA2 PAX2 SALL1 SIX1 SIX5
29 autosomal dominant microcephaly 6.5 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1

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:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 retrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000278
3 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
4 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
5 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
6 ureteropelvic junction obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0000074
7 preauricular skin tag 56 32 frequent (33%) Frequent (79-30%) HP:0000384
8 facial palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0010628
9 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
10 renal hypoplasia/aplasia 56 32 frequent (33%) Frequent (79-30%) HP:0008678
11 external ear malformation 56 32 frequent (33%) Frequent (79-30%) HP:0008572
12 multicystic kidney dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000003
13 abnormality of the lacrimal duct 56 32 occasional (7.5%) Occasional (29-5%) HP:0011481
14 enlarged cochlear aqueduct 56 32 frequent (33%) Frequent (79-30%) HP:0011388
15 stenosis of the external auditory canal 56 32 frequent (33%) Frequent (79-30%) HP:0000402
16 atresia of the external auditory canal 56 32 frequent (33%) Frequent (79-30%) HP:0000413
17 abnormality of the middle ear ossicles 56 32 frequent (33%) Frequent (79-30%) HP:0004452
18 hypoplasia of the cochlea 56 32 frequent (33%) Frequent (79-30%) HP:0008586
19 branchial cyst 56 32 frequent (33%) Frequent (79-30%) HP:0009796

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

26
id 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:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.05 EYA1 HOXA2 HS6ST1 OTX2 PAX2 SALL1
2 cellular MP:0005384 10.04 SIX1 EYA1 HOXA2 HS6ST1 OTX2 PAX2
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 TAP1 EYA1 HOXA2 OTX2 PAX2 SALL1
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):


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

Interventional clinical trials:


id 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:

39
Kidney, Skin

Publications for Branchiootorenal Syndrome

Articles related to Branchiootorenal Syndrome:

id 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 27)
id 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, ALU INS, EX10 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_172060.3(EYA1): c.867+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
11 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
12 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
13 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
14 EYA1 NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn) single nucleotide variant Likely pathogenic rs397517918 GRCh37 Chromosome 8, 72127640: 72127640
15 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
16 EYA1 NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro) single nucleotide variant Likely pathogenic rs397517920 GRCh37 Chromosome 8, 72111606: 72111606
17 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
18 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
19 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
20 EYA1 NC_000008.11: g.(?_71199264)_(71356523_?)del deletion Pathogenic GRCh37 Chromosome 8, 72111499: 72268758
21 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
22 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh38 Chromosome 8, 71317680: 71317680
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

Copy number variations for Branchiootorenal Syndrome from CNVD:

7
id 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:

id 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)
id 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 from RNA polymerase II promoter 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 from RNA polymerase II promoter 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:

id 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 core promoter proximal region 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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