MCID: BRN006
MIFTS: 40

Branchiootorenal Syndrome malady

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

Aliases & Classifications for Branchiootorenal Syndrome

Aliases & Descriptions 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
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 70 C0265234
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 branchiootorenal syndrome 1, with or without cataracts and branchiootorenal syndrome 2, and has symptoms including facial palsy, hearing impairment and renal insufficiency. 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 cellular

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 27)
id Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 1, with or without cataracts 12.1
2 branchiootorenal syndrome 2 12.1
3 branchiootic syndrome 1 11.0
4 six5-related branchiootorenal spectrum disorders 10.9
5 brachiootic syndrome 3 10.8
6 branchiootorenal spectrum disorders 10.7
7 eya1-related branchiootorenal spectrum disorders 10.7
8 branchiootorenal/branchiootic syndrome 10.7
9 corticosterone methyloxidase deficiency 10.2 EYA1 SIX1
10 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.2 EYA1 SIX1
11 question mark ears, isolated 10.2 EYA1 SIX5
12 schizencephaly 10.2 SIX1 SIX6
13 clcn7-related osteopetrosis 10.1 EYA1 SIX1 SIX5
14 amenorrhea 10.1 EYA1 SIX1 SIX5
15 stuttering, familial persistent, 4 10.1 EYA1 SALL1
16 pseudohypoparathyroidism ia 10.1 PAX2 SALL1
17 idiopathic steroid-sensitive nephrotic syndrome with minimal change 10.0 PAX2 SALL1
18 warburg micro syndrome 10.0 EYA1 SIX1 SIX5 SIX6
19 rhizomelic chondrodysplasia punctata spectrum 9.9 EYA1 PAX2 SALL1 SIX1
20 temple syndrome 9.9 HOXA2 OTX2 SALL1
21 cornelia de lange syndrome 5 9.9 HOXA2 OTX2 PAX2
22 cystinosis 9.9 OTX2 PAX2 SIX6
23 meier-gorlin syndrome 1 9.9 OTX2 PAX2
24 pancreatic agenesis 2 9.6 EYA1 HOXA2 PAX2 SALL1 SIX1 SIX5
25 retinitis pigmentosa 63 9.4 DACH1 EYA1 EYA4 PAX2 SIX1 SIX5
26 otofaciocervical syndrome 8.7 DACH1 EYA1 EYA4 HOXA2 PAX2 SALL1
27 hereditary angioedema 8.5 DACH1 EYA1 EYA4 HOXA2 OTX2 PAX2

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 facial palsy 56 32 Occasional (29-5%) HP:0010628
2 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
3 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
4 cleft palate 56 32 Occasional (29-5%) HP:0000175
5 retrognathia 56 32 Occasional (29-5%) HP:0000278
6 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
7 renal hypoplasia/aplasia 56 32 Frequent (79-30%) HP:0008678
8 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
9 preauricular skin tag 56 32 Frequent (79-30%) HP:0000384
10 external ear malformation 56 32 Frequent (79-30%) HP:0008572
11 abnormality of the lacrimal duct 56 32 Occasional (29-5%) HP:0011481
12 ureteropelvic junction obstruction 56 32 Occasional (29-5%) HP:0000074
13 enlarged cochlear aqueduct 56 32 Frequent (79-30%) HP:0011388
14 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
15 stenosis of the external auditory canal 56 32 Frequent (79-30%) HP:0000402
16 atresia of the external auditory canal 56 32 Frequent (79-30%) HP:0000413
17 abnormality of the middle ear ossicles 56 32 Frequent (79-30%) HP:0004452
18 hypoplasia of the cochlea 56 32 Frequent (79-30%) HP:0008586
19 branchial cyst 56 32 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 cellular MP:0005384 10.05 DACH1 EYA1 HOXA2 OTX2 PAX2 SALL1
2 mortality/aging MP:0010768 10.02 SALL1 SIX1 TAP1 DACH1 EYA1 EYA4
3 endocrine/exocrine gland MP:0005379 9.98 DACH1 EYA1 OTX2 PAX2 SIX1 SIX5
4 digestive/alimentary MP:0005381 9.95 EYA1 EYA4 HOXA2 OTX2 SALL1 SIX1
5 hearing/vestibular/ear MP:0005377 9.95 SIX1 EYA1 EYA4 HOXA2 OTX2 PAX2
6 embryo MP:0005380 9.93 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
7 nervous system MP:0003631 9.91 DACH1 EYA1 HOXA2 OTX2 PAX2 SALL1
8 craniofacial MP:0005382 9.89 EYA1 EYA4 HOXA2 OTX2 SIX1
9 muscle MP:0005369 9.72 EYA1 HOXA2 OTX2 SIX1 SIX5
10 respiratory system MP:0005388 9.55 HOXA2 OTX2 SIX1 DACH1 EYA1
11 skeleton MP:0005390 9.43 DACH1 EYA1 HOXA2 OTX2 SALL1 SIX1
12 vision/eye MP:0005391 9.1 EYA1 OTX2 PAX2 SIX1 SIX5 SIX6

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 7440-42-8

Interventional clinical trials:


id Name Status NCT ID Phase
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 GRCh37 Chromosome 8, 72229915: 72229915
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 GRCh38 Chromosome 8, 71211239: 71211239

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 nucleus GO:0005634 9.32 DACH1 EYA1 EYA4 HOXA2 OTX2 PAX2
2 protein-DNA complex GO:0032993 8.96 EYA1 PAX2

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

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 DACH1 HOXA2 SALL1 SIX1
2 transcription from RNA polymerase II promoter GO:0006366 9.96 OTX2 PAX2 SIX1 SIX6
3 positive regulation of transcription, DNA-templated GO:0045893 9.95 EYA1 OTX2 PAX2 SALL1 SIX1
4 negative regulation of transcription, DNA-templated GO:0045892 9.94 DACH1 PAX2 SALL1 SIX5
5 regulation of transcription, DNA-templated GO:0006355 9.85 DACH1 EYA1 EYA4 HOXA2 OTX2 PAX2
6 visual perception GO:0007601 9.83 EYA4 PAX2 SIX6
7 sensory perception of sound GO:0007605 9.79 EYA1 EYA4 SIX1
8 inner ear morphogenesis GO:0042472 9.71 EYA1 PAX2 SIX1
9 inner ear development GO:0048839 9.67 EYA4 SIX1
10 pattern specification process GO:0007389 9.67 EYA1 HOXA2 SIX1
11 outflow tract morphogenesis GO:0003151 9.66 EYA1 SIX1
12 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.66 EYA1 EYA4
13 positive regulation of DNA repair GO:0045739 9.65 EYA1 EYA4
14 embryonic skeletal system morphogenesis GO:0048704 9.65 EYA1 HOXA2 SIX1
15 regulation of neuron differentiation GO:0045664 9.64 EYA1 SIX1
16 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 PAX2 SIX1
17 cell fate determination GO:0001709 9.63 HOXA2 PAX2
18 pharyngeal system development GO:0060037 9.62 EYA1 SIX1
19 neuron fate specification GO:0048665 9.61 EYA1 SIX1
20 anatomical structure development GO:0048856 9.61 EYA1 SIX1
21 aorta morphogenesis GO:0035909 9.6 EYA1 SIX1
22 animal organ development GO:0048513 9.59 PAX2 SIX1
23 outer ear morphogenesis GO:0042473 9.58 EYA1 SALL1
24 metanephric mesenchyme development GO:0072075 9.58 PAX2 SIX1
25 ureteric bud development GO:0001657 9.58 EYA1 SALL1 SIX1
26 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.57 PAX2 SALL1
27 otic vesicle development GO:0071599 9.56 EYA1 SIX1
28 branching involved in ureteric bud morphogenesis GO:0001658 9.56 EYA1 PAX2 SALL1 SIX1
29 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.56 EYA1 HOXA2 OTX2 PAX2 SALL1 SIX1
30 cochlea morphogenesis GO:0090103 9.54 EYA1 PAX2 SIX1
31 histone dephosphorylation GO:0016576 9.52 EYA1 EYA4
32 mesodermal cell fate specification GO:0007501 9.51 EYA1 PAX2
33 middle ear morphogenesis GO:0042474 9.5 EYA1 HOXA2 SIX1
34 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.43 EYA1 SIX1
35 multicellular organism development GO:0007275 9.28 DACH1 EYA1 EYA4 HOXA2 OTX2 PAX2
36 transcription, DNA-templated GO:0006351 10.06 DACH1 EYA1 EYA4 HOXA2 PAX2 SALL1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.72 DACH1 HOXA2 OTX2 SALL1 SIX1
2 DNA binding GO:0003677 9.56 DACH1 HOXA2 OTX2 PAX2 SALL1 SIX1
3 sequence-specific DNA binding GO:0043565 9.55 HOXA2 OTX2 SALL1 SIX1 SIX5
4 transcription regulatory region DNA binding GO:0044212 9.54 PAX2 SALL1 SIX1
5 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 9.43 DACH1 HOXA2 SALL1
6 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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