Branchiootorenal Syndrome malady

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

Aliases & Classifications for Branchiootorenal Syndrome

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10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Branchiootorenal Syndrome:

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


Orphanet epidemiological data:

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
NCIt42 C98983
Orphanet51 107
SNOMED-CT59 205806009, 290006
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D019280
UMLS via Orphanet66 C0265234
UMLS65 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 branchiootic syndrome 1 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, skin and bone, and related mouse phenotypes are vision/eye and muscle.

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 24)
idRelated DiseaseScoreTop Affiliating Genes
1branchiootic syndrome 130.8EYA1, SIX1
2branchiootorenal syndrome 212.1
3branchiootorenal syndrome 1, with or without cataracts12.0
4six5-related branchiootorenal spectrum disorders11.0
5branchiootorenal spectrum disorders10.9
6eya1-related branchiootorenal spectrum disorders10.9
7branchiootorenal/branchiootic syndrome10.9
8c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.2EYA1, SIX1, SIX5
9visual pathway disease10.2EYA1, SIX1, SIX5
10amyotrophic lateral sclerosis 1210.2SIX1, SIX6
11functional diarrhea10.2OTX2, PAX2
12cardiomyopathy, dilated, 2b10.1OTX2, PAX2
13brachiootic syndrome 39.9
14carnitine palmitoyltransferase ii deficiency9.9EYA1, SIX1, SIX5, SIX6
15interstitial nephritis9.9OTX2, PAX2, SIX6
16mild late-onset parkinsonism, mapt-related9.9EYA1, HOXA2
17tooth agenesis, selective, 29.8EYA1, FOXRED1, SALL1
18acral persistent papular mucinosis9.8EYA4, SIX1
19anisometropia9.8OTX2, PAX2
20renal tubular dysgenesis, ace-related9.6EYA1, PAX2, SALL1, SIX1
21microphthalmia, isolated 19.6HOXA2, OTX2, SALL1
22auriculocondylar syndrome 39.5DACH1, EYA1, SALL1, SIX5
23pancreatic and cerebellar agenesis9.1EYA1, HOXA2, PAX2, SALL1, SIX5
24type i ehlers-danlos syndrome6.4DACH1, 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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 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
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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Anatomical Context for Branchiootorenal Syndrome

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MalaCards organs/tissues related to Branchiootorenal Syndrome:

Kidney, Skin, Bone, Breast, T cells

Animal Models for Branchiootorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8EYA1, OTX2, PAX2, SIX1, SIX5, SIX6
2MP:00053698.8EYA1, HOXA2, OTX2, SIX1, SIX5
3MP:00053888.7DACH1, EYA1, HOXA2, OTX2, SIX1
4MP:00053808.4EYA1, HOXA2, OTX2, PAX2, SALL1, SIX1
5MP:00053798.3DACH1, EYA1, OTX2, PAX2, SIX1, SIX5
6MP:00053828.1EYA1, EYA4, HOXA2, OTX2, SIX1
7MP:00053857.8EYA1, HOXA2, OTX2, PAX2, SALL1, SIX1
8MP:00053907.8DACH1, EYA1, HOXA2, OTX2, SALL1, SIX1
9MP:00053817.8EYA1, EYA4, HOXA2, OTX2, SALL1, SIX1
10MP:00053847.6DACH1, EYA1, HOXA2, OTX2, PAX2, SALL1
11MP:00036317.3DACH1, EYA1, HOXA2, OTX2, PAX2, SALL1
12MP:00053776.8EYA1, EYA4, HOXA2, OTX2, PAX2, SALL1
13MP:00107686.6DACH1, EYA1, EYA4, HOXA2, OTX2, PAX2

Publications for Branchiootorenal Syndrome

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Articles related to Branchiootorenal Syndrome:

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

Variations for Branchiootorenal Syndrome

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:007251310.6EYA1, SIX1
2anatomical structure developmentGO:004885610.5EYA1, SIX1
3mesodermal cell fate specificationGO:000750110.5EYA1, PAX2
4neuron fate specificationGO:004866510.5EYA1, SIX1
5positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.4PAX2, SIX1
6cochlea morphogenesisGO:009010310.4EYA1, SIX1
7pharyngeal system developmentGO:006003710.4EYA1, SIX1
8aorta morphogenesisGO:003590910.4EYA1, SIX1
9outflow tract morphogenesisGO:000315110.4EYA1, SIX1
10animal organ developmentGO:004851310.4PAX2, SIX1
11metanephric mesenchyme developmentGO:007207510.3PAX2, SIX1
12mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.2PAX2, SALL1
13outer ear morphogenesisGO:004247310.2EYA1, SALL1
14embryonic skeletal system morphogenesisGO:004870410.1HOXA2, SIX1
15middle ear morphogenesisGO:004247410.1HOXA2, SIX1
16cell fate commitmentGO:004516510.0EYA1, HOXA2
17pattern specification processGO:00073899.9EYA1, HOXA2
18inner ear morphogenesisGO:00424729.8EYA1, PAX2, SIX1
19inner ear developmentGO:00488399.7EYA4, SIX1
20ureteric bud developmentGO:00016579.7EYA1, SALL1, SIX1
21cell fate determinationGO:00017099.7HOXA2, PAX2
22cellular response to retinoic acidGO:00713009.6HOXA2, PAX2
23positive regulation of transcription, DNA-templatedGO:00458939.4EYA1, OTX2, SALL1, SIX1
24sensory perception of soundGO:00076059.0EYA1, EYA4, SIX1
25negative regulation of transcription, DNA-templatedGO:00458928.9DACH1, PAX2, SALL1, SIX5
26regulation of transcription, DNA-templatedGO:00063558.6DACH1, EYA1, OTX2, PAX2, SIX1
27positive regulation of transcription from RNA polymerase II promoterGO:00459448.2EYA1, OTX2, PAX2, SALL1, SIX1
28multicellular organism developmentGO:00072758.0DACH1, EYA1, EYA4, OTX2, PAX2

Sources for Branchiootorenal Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet