MCID: BRN006
MIFTS: 40

Branchiootorenal Syndrome malady

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

Aliases & Classifications for Branchiootorenal Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

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

Classifications:



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 breast, 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 29)
idRelated DiseaseScoreTop Affiliating Genes
1branchiootic syndrome 131.2EYA1, SIX1
2branchiootorenal syndrome 212.5
3branchiootorenal syndrome 1, with or without cataracts12.4
4six5-related branchiootorenal spectrum disorders11.4
5branchiootorenal spectrum disorders11.3
6eya1-related branchiootorenal spectrum disorders11.3
7branchiootorenal/branchiootic syndrome11.3
8brachiootic syndrome 310.3
9rothmund-thomson syndrome10.3
10motion sickness10.3
11vulvitis10.3
12sickle cell disease10.3
13shaken baby syndrome10.3
14c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.1EYA1, SIX1, SIX5
15visual pathway disease10.1EYA1, SIX1, SIX5
16amyotrophic lateral sclerosis 1210.1SIX1, SIX6
17functional diarrhea10.1OTX2, PAX2
18cardiomyopathy, dilated, 2b10.1OTX2, PAX2
19carnitine palmitoyltransferase ii deficiency9.9EYA1, SIX1, SIX5, SIX6
20interstitial nephritis9.9OTX2, PAX2, SIX6
21mild late-onset parkinsonism, mapt-related9.9EYA1, HOXA2
22tooth agenesis, selective, 29.9EYA1, FOXRED1, SALL1
23acral persistent papular mucinosis9.9EYA4, SIX1
24anisometropia9.9OTX2, PAX2
25renal tubular dysgenesis, ace-related9.8EYA1, PAX2, SALL1, SIX1
26microphthalmia, isolated 19.7HOXA2, OTX2, SALL1
27auriculocondylar syndrome 39.7DACH1, EYA1, SALL1, SIX5
28pancreatic and cerebellar agenesis9.4EYA1, HOXA2, PAX2, SALL1, SIX5
29type i ehlers-danlos syndrome7.6DACH1, 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
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:

33
Kidney, Skin, Breast, Bone, 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:

idTitleAuthorsYear
1
Perception of vocal tremor during sustained phonation compared with sentence context. (22521323)
2012
2
Mammaglobin and lipophilin B expression in breast tumors and their lack of effect on breast cancer cell proliferation. (18630503)
2008
3
A case-control and family-based association study of the 5-HTTLPR in pediatric-onset depressive disorders. (15312818)
2004
4
Possession of human leucocyte antigen DQ6 alleles and the rate of CD4 T-cell decline in human immunodeficiency virus-1 infection. (15096192)
2004
5
The effects of intravenous alendronate in Paget's disease of bone. (7484285)
1995
6
Efficacy of glutathione for treatment of fascioliasis. An investigation in the experimentally infested rat. (8494576)
1993
7
Alterations of blood analyses at relapse of osteosarcoma and Ewing's sarcoma. (1976322)
1990

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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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