MCID: BRN006
MIFTS: 48

Branchiootorenal Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Branchiootorenal Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 10 45 23 12 51
Branchio-Oto-Renal Syndrome 10 23 65 36
Melnick-Fraser Syndrome 10 45 23 24
Bor Syndrome 45 23 47 51
Branchiootorenal Dysplasia 10 45 23
 
Branchio-Otorenal Dysplasia 10 23
Branchio Oto Renal Syndrome 45
Branchio-Otorenal Syndrome 23
Bor 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
branchiootorenal syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:14702
MeSH36 D019280
Orphanet51 107
SNOMED-CT59 290006, 205806009
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D019280
UMLS via Orphanet66 C0265234

Summaries for Branchiootorenal Syndrome

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NIH Rare Diseases:45 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 hearing impairment, abnormality of the inner ear and abnormality of the middle ear. An important gene associated with Branchiootorenal Syndrome is SIX5 (SIX Homeobox 5). Affiliated tissues include kidney and skin, and related mouse phenotypes are muscle and craniofacial.

Genetics Home Reference:23 Branchiootorenal (BOR) syndrome is a genetic condition that typically disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition can vary, however.

Related Diseases for Branchiootorenal Syndrome

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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 28)
idRelated DiseaseScoreTop Affiliating Genes
1branchiootorenal syndrome 1, with or without cataracts31.0EYA1, SIX1
2branchiootorenal syndrome 210.6
3bor-duane hydrocephalus contiguous gene syndrome10.4
4fraser syndrome10.4
5otofaciocervical syndrome10.4
6hemifacial microsomia10.4
7glomerulosclerosis10.4
8pancreatitis10.4
9branchiootic syndrome 110.3
10hydrocephalus10.2
11brachiootic syndrome 310.1
12branchiootorenal spectrum disorders10.1
13eya1-related branchiootorenal spectrum disorders10.1
14six5-related branchiootorenal spectrum disorders10.1
15branchiootic syndrome10.1
16cervicitis10.1
17c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.1EYA1, SIX1, SIX5
18tooth agenesis, selective, 210.1EYA1, SALL1
19charge syndrome10.0OTX2, PAX2
20bacterial esophagitis10.0EYA1, SIX1, SIX5
21van maldergem syndrome9.9EYA1, SIX1, SIX5, SIX6
22mild late-onset parkinsonism, mapt-related9.9EYA1, HOXA2
23microphthalmia, isolated 19.9HOXA2, OTX2, SALL1
24primary optic atrophy9.9OTX2, PAX2, SIX6
25renal tubular dysgenesis, ace-related9.9EYA1, PAX2, SALL1, SIX1
26branchiooculofacial syndrome9.8DACH1, EYA1, SALL1, SIX5
27renal hypodysplasia/aplasia 19.7EYA1, PAX2, SALL1, SIX1, SIX5
28middle lobe syndrome8.5DACH1, EYA1, EYA4, FOXRED1, HOXA2, OTX2

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



Diseases related to branchiootorenal syndrome

Symptoms for Branchiootorenal Syndrome

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Symptoms:

 51 (show all 17)
  • hearing loss/hypoacusia/deafness
  • autosomal dominant inheritance
  • external ear anomalies
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • preauricular/branchial tags/appendages
  • agenesis/hypoplasia/aplasia of kidneys
  • facial palsy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • defect/anomaly of lacrimal system
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external auditory canal atresia/stenosis/agenesis
  • multicystic kidney/renal dysplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • renal failure

HPO human phenotypes related to Branchiootorenal Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 abnormality of the inner ear typical (50%) HP:0000359
3 abnormality of the middle ear typical (50%) HP:0000370
4 preauricular skin tag typical (50%) HP:0000384
5 external ear malformation typical (50%) HP:0008572
6 renal hypoplasia/aplasia typical (50%) HP:0008678
7 multicystic kidney dysplasia occasional (7.5%) HP:0000003
8 vesicoureteral reflux occasional (7.5%) HP:0000076
9 renal insufficiency occasional (7.5%) HP:0000083
10 cleft palate occasional (7.5%) HP:0000175
11 micrognathia occasional (7.5%) HP:0000347
12 atresia of the external auditory canal occasional (7.5%) HP:0000413
13 lacrimation abnormality occasional (7.5%) HP:0000632
14 facial palsy occasional (7.5%) HP:0010628

Drugs & Therapeutics for Branchiootorenal Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Boron187440-42-8
Synonyms:
B
 
Boron metallic
Trona elemental boron

Interventional clinical trials:

idNameStatusNCT IDPhase
1Relation of Blood-boron Levels With Body Mass IndexNot yet recruitingNCT01400061

Search NIH Clinical Center for Branchiootorenal Syndrome


Cochrane evidence based reviews: Branchio-Oto-Renal Syndrome

Genetic Tests for Branchiootorenal Syndrome

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Genetic tests related to Branchiootorenal Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Fraser Syndrome24

Anatomical Context for Branchiootorenal Syndrome

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MalaCards organs/tissues related to Branchiootorenal Syndrome:

33
Kidney, Skin

Animal Models for Branchiootorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9EYA1, HOXA2, OTX2, SIX1, SIX5
2MP:00053828.5EYA1, EYA4, HOXA2, OTX2, SIX1
3MP:00053918.5EYA1, OTX2, PAX2, SIX1, SIX5, SIX6
4MP:00053888.4DACH1, EYA1, HOXA2, OTX2, SIX1
5MP:00053808.3EYA1, HOXA2, OTX2, PAX2, SALL1, SIX1
6MP:00053858.3EYA1, HOXA2, OTX2, PAX2, SALL1, SIX1
7MP:00053818.0EYA1, EYA4, HOXA2, OTX2, SALL1, SIX1
8MP:00053797.9DACH1, EYA1, OTX2, PAX2, SIX1, SIX5
9MP:00053777.7EYA1, EYA4, HOXA2, OTX2, PAX2, SALL1
10MP:00036316.9DACH1, EYA1, HOXA2, OTX2, PAX2, SALL1
11MP:00107686.9DACH1, EYA1, EYA4, HOXA2, OTX2, PAX2

Publications for Branchiootorenal Syndrome

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Articles related to Branchiootorenal Syndrome:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Branchiootorenal Syndrome:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NC_000008.11: g.(?_71199264)_(71356523_?)deldeletionPathogenicGRCh37Chr 8, 72111499: 72268758
2EYA1NM_000503.5(EYA1): c.1475+1G> Csingle nucleotide variantPathogenicrs727503042GRCh37Chr 8, 72127848: 72127848
3EYA1NM_000503.5(EYA1): c.428G> A (p.Trp143Ter)single nucleotide variantPathogenicrs727504494GRCh37Chr 8, 72229915: 72229915
4EYA1NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs)deletionPathogenicrs397517916GRCh37Chr 8, 72156856: 72156856
5EYA1NM_000503.5(EYA1): c.1361-1G> Tsingle nucleotide variantPathogenicrs397517917GRCh37Chr 8, 72127964: 72127964
6EYA1NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn)single nucleotide variantLikely pathogenicrs397517918GRCh37Chr 8, 72127640: 72127640
7EYA1NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs)insertionPathogenicrs397517919GRCh37Chr 8, 72123391: 72123392
8EYA1NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro)single nucleotide variantLikely pathogenicrs397517920GRCh37Chr 8, 72111606: 72111606
9SIX1NM_005982.3(SIX1): c.317T> G (p.Val106Gly)single nucleotide variantPathogenicrs397515560GRCh37Chr 14, 61115591: 61115591
10SIX1NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs397515561GRCh37Chr 14, 61115574: 61115574
11SIX1NM_005982.3(SIX1): c.50T> A (p.Val17Glu)single nucleotide variantPathogenicrs397515562GRCh37Chr 14, 61115858: 61115858
12EYA1NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)single nucleotide variantPathogenicrs121909195GRCh37Chr 8, 72184037: 72184037
13EYA1EYA1, 1-BP DEL AND 2-BP INS, 1251T-CCindelPathogenic
14EYA1EYA1, ALU INS, EX10insertionPathogenic
15EYA1NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs)deletionPathogenicrs606231355GRCh38Chr 8, 71211156: 71211159
16EYA1NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)single nucleotide variantPathogenicrs121909196GRCh37Chr 8, 72128968: 72128968
17EYA1EYA1, 1-BP INS, 387TinsertionPathogenic
18EYA1NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)single nucleotide variantPathogenicrs121909200GRCh37Chr 8, 72127865: 72127865
19EYA1NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)single nucleotide variantPathogenicrs121909201GRCh37Chr 8, 72127705: 72127705
20EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
21EYA1NM_172060.3(EYA1): c.867+5G> Asingle nucleotide variantPathogenicrs606231357GRCh38Chr 8, 71271753: 71271753
22SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
23SIX5NM_175875.4(SIX5): c.472G> A (p.Ala158Thr)single nucleotide variantPathogenicrs80356461GRCh37Chr 19, 46271631: 46271631
24SIX5NM_175875.4(SIX5): c.886G> A (p.Ala296Thr)single nucleotide variantPathogenicrs80356462GRCh37Chr 19, 46270331: 46270331
25SIX5NM_175875.4(SIX5): c.1093G> A (p.Gly365Arg)single nucleotide variantPathogenicrs80356463GRCh37Chr 19, 46270124: 46270124
26SIX5NM_175875.4(SIX5): c.1655C> T (p.Thr552Met)single nucleotide variantPathogenicrs80356464GRCh37Chr 19, 46269324: 46269324

Expression for genes affiliated with Branchiootorenal Syndrome

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Search GEO for disease gene expression data for Branchiootorenal Syndrome.

Pathways for genes affiliated with Branchiootorenal Syndrome

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GO Terms for genes affiliated with Branchiootorenal Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.1DACH1, EYA1, EYA4, HOXA2, OTX2, PAX2

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1neuron fate specificationGO:004866510.6EYA1, SIX1
2positive regulation of secondary heart field cardioblast proliferationGO:007251310.6EYA1, SIX1
3aorta morphogenesisGO:003590910.6EYA1, SIX1
4pharyngeal system developmentGO:006003710.5EYA1, SIX1
5metanephric mesenchyme developmentGO:007207510.4PAX2, SIX1
6regulation of neuron differentiationGO:004566410.4EYA1, SIX1
7outer ear morphogenesisGO:004247310.4EYA1, SALL1
8mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.3PAX2, SALL1
9outflow tract morphogenesisGO:000315110.3EYA1, SIX1
10dorsal/ventral pattern formationGO:000995310.3HOXA2, OTX2
11neurogenesisGO:002200810.2SALL1, SIX1
12anatomical structure developmentGO:004885610.1EYA1, OTX2, SIX1
13cell fate determinationGO:000170910.0HOXA2, PAX2
14otic vesicle developmentGO:007159910.0EYA1, SIX1
15positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.0PAX2, SALL1, SIX1
16cochlea morphogenesisGO:009010310.0EYA1, PAX2, SIX1
17ureteric bud developmentGO:00016579.9EYA1, SALL1, SIX1
18pattern specification processGO:00073899.9EYA1, HOXA2, SIX1
19organ morphogenesisGO:00098879.9EYA1, OTX2, SIX6
20cell fate commitmentGO:00451659.9EYA1, HOXA2, OTX2
21embryonic skeletal system morphogenesisGO:00487049.9EYA1, HOXA2, SIX1
22branching involved in ureteric bud morphogenesisGO:00016589.5EYA1, PAX2, SALL1, SIX1
23inner ear developmentGO:00488399.5EYA4, SIX1
24positive regulation of transcription, DNA-templatedGO:00458939.3OTX2, PAX2, SALL1, SIX1
25inner ear morphogenesisGO:00424729.3EYA1, OTX2, PAX2, SIX1
26sensory perception of soundGO:00076059.3EYA1, EYA4, SIX1
27middle ear morphogenesisGO:00424749.2EYA1, EYA4, HOXA2, SIX1
28visual perceptionGO:00076019.1EYA4, PAX2, SIX6
29negative regulation of transcription, DNA-templatedGO:00458929.1DACH1, PAX2, SALL1, SIX5
30transcription from RNA polymerase II promoterGO:00063668.7OTX2, PAX2, SIX1, SIX6
31multicellular organismal developmentGO:00072758.7EYA1, EYA4, OTX2, PAX2
32negative regulation of transcription from RNA polymerase II promoterGO:00001228.7DACH1, HOXA2, SALL1, SIX1
33transcription, DNA-templatedGO:00063518.0EYA1, EYA4, HOXA2, PAX2, SALL1, SIX5
34positive regulation of transcription from RNA polymerase II promoterGO:00459447.5EYA1, HOXA2, OTX2, PAX2, SALL1, SIX1
35regulation of transcription, DNA-templatedGO:00063556.8DACH1, EYA1, EYA4, HOXA2, OTX2, PAX2

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.7PAX2, SALL1, SIX1
2transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.4DACH1, HOXA2, SALL1
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.9HOXA2, OTX2, SALL1, SIX1, SIX5
4sequence-specific DNA bindingGO:00435658.5HOXA2, OTX2, SALL1, SIX1, SIX5
5transcription factor activity, sequence-specific DNA bindingGO:00037008.0DACH1, HOXA2, OTX2, SALL1, SIX1
6DNA bindingGO:00036777.1DACH1, HOXA2, OTX2, PAX2, SALL1, SIX1

Sources for Branchiootorenal Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet