MCID: BRN006
MIFTS: 39

Branchiootorenal Syndrome malady

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

Aliases & Classifications for Branchiootorenal Syndrome

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 11 46 13 52
Branchio-Oto-Renal Syndrome 11 37 66
Bor Syndrome 46 52 48
Branchiootorenal Dysplasia 11 46
 
Melnick-Fraser Syndrome 11 46
Branchio Oto Renal Syndrome 46
Branchio-Otorenal Dysplasia 11

Characteristics:

Orphanet epidemiological data:

52
branchiootorenal syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Canada); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:14702
MeSH37 D019280
NCIt43 C98983
Orphanet52 ORPHA107
SNOMED-CT60 205806009, 290006
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 D019280
UMLS via Orphanet67 C0265234

Summaries for Branchiootorenal Syndrome

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NIH Rare Diseases:46 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 and skin, and related mouse phenotypes are muscle and craniofacial.

Related Diseases for Branchiootorenal Syndrome

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Graphical network of diseases related to Branchiootorenal Syndrome:



Diseases related to branchiootorenal syndrome

Symptoms for Branchiootorenal Syndrome

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Symptoms:

 52 (show all 19)
  • ureteropelvic junction obstruction
  • renal insufficiency
  • cleft palate
  • retrognathia
  • hearing impairment
  • preauricular skin tag
  • external ear malformation
  • renal hypoplasia/aplasia
  • enlarged cochlear aqueduct
  • multicystic kidney dysplasia
  • vesicoureteral reflux
  • hydronephrosis
  • stenosis of the external auditory canal
  • atresia of the external auditory canal
  • abnormality of the middle ear ossicles
  • hypoplasia of the cochlea
  • branchial cyst
  • facial palsy
  • abnormality of the lacrimal duct

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
Boron197440-42-8
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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Anatomical Context for Branchiootorenal Syndrome

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MalaCards organs/tissues related to Branchiootorenal Syndrome:

34
Kidney, Skin

Animal Models for Branchiootorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9EYA1, HOXA2, OTX2, SIX1, SIX5
2MP:00053828.8EYA1, EYA4, HOXA2, OTX2, SIX1
3MP:00053808.7EYA1, HOXA2, OTX2, SALL1, SIX1
4MP:00053918.4EYA1, OTX2, SIX1, SIX5, SIX6
5MP:00053778.4EYA1, EYA4, HOXA2, OTX2, SALL1, SIX1
6MP:00053888.3DACH1, EYA1, HOXA2, OTX2, SIX1
7MP:00053818.1EYA1, EYA4, HOXA2, OTX2, SALL1, SIX1
8MP:00053797.8DACH1, EYA1, OTX2, SIX1, SIX5, SIX6
9MP:00053907.6DACH1, EYA1, HOXA2, OTX2, SALL1, SIX1
10MP:00036316.6DACH1, EYA1, HOXA2, OTX2, SALL1, SIX1
11MP:00107686.5DACH1, EYA1, EYA4, HOXA2, OTX2, SALL1

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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Copy number variations for Branchiootorenal Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
124244387230567972332204DeletionEYA1Branchiootorenal syndrome

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:00056346.4DACH1, EYA1, EYA4, HOXA2, OTX2, SALL1

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:007251310.5EYA1, SIX1
2pharyngeal system developmentGO:006003710.5EYA1, SIX1
3anatomical structure developmentGO:004885610.4EYA1, SIX1
4outer ear morphogenesisGO:004247310.4EYA1, SALL1
5aorta morphogenesisGO:003590910.4EYA1, SIX1
6otic vesicle developmentGO:007159910.4EYA1, SIX1
7cochlea morphogenesisGO:009010310.3EYA1, SIX1
8outflow tract morphogenesisGO:000315110.3EYA1, SIX1
9cell fate commitmentGO:004516510.2EYA1, HOXA2
10neuron fate specificationGO:004866510.2EYA1, SIX1
11neurogenesisGO:002200810.2SALL1, SIX1
12inner ear morphogenesisGO:004247210.1EYA1, SIX1
13inner ear developmentGO:004883910.0EYA4, SIX1
14middle ear morphogenesisGO:004247410.0EYA1, HOXA2, SIX1
15regulation of neuron differentiationGO:00456649.9EYA1, SIX1
16ureteric bud developmentGO:00016579.8EYA1, SALL1, SIX1
17branching involved in ureteric bud morphogenesisGO:00016589.8EYA1, SALL1, SIX1
18sensory perception of soundGO:00076059.6EYA1, EYA4, SIX1
19pattern specification processGO:00073899.6EYA1, HOXA2, SIX1
20embryonic skeletal system morphogenesisGO:00487049.4EYA1, HOXA2, SIX1
21positive regulation of transcription, DNA-templatedGO:00458939.2EYA1, OTX2, SALL1, SIX1
22negative regulation of transcription from RNA polymerase II promoterGO:00001228.0DACH1, HOXA2, SALL1, SIX1
23positive regulation of transcription from RNA polymerase II promoterGO:00459447.7EYA1, HOXA2, OTX2, SALL1, SIX1, SIX5

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.0DACH1, HOXA2, SALL1
2sequence-specific DNA bindingGO:00435658.9HOXA2, SALL1, SIX1, SIX5
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8HOXA2, OTX2, SALL1, SIX1, SIX5
4DNA bindingGO:00036777.9DACH1, SALL1, SIX1, SIX5, SIX6

Sources for Branchiootorenal Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet