Branchiootorenal Syndrome malady

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

Aliases & Classifications for Branchiootorenal Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 22GTR, 61UMLS, 44Novoseek, 56SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Branchiootorenal Syndrome:

Name: Branchiootorenal Syndrome 8 42 21 10 48
Melnick-Fraser Syndrome 8 42 21 22
Bor Syndrome 42 21 44 48
Branchio-Oto-Renal Syndrome 8 21 61
Branchiootorenal Dysplasia 8 42 21
Branchio-Otorenal Dysplasia 8 21
Branchio Oto Renal Syndrome 42
Branchio-Otorenal Syndrome 21
Bor 21


Characteristics (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 Ontology8 DOID:14702
MeSH33 D019280
Orphanet48 107
SNOMED-CT56 205806009, 290006
MESH via Orphanet34 D019280
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C0265234

Summaries for Branchiootorenal Syndrome

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NIH Rare Diseases:42 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 melnick-fraser syndrome, is related to branchiootorenal spectrum disorders and fraser syndrome, and has symptoms including hearing impairment, abnormality of the inner ear and preauricular skin tag. An important gene associated with Branchiootorenal Syndrome is SIX5 (SIX homeobox 5), and among its related pathways is Transcriptional misregulation in cancer. Affiliated tissues include kidney and skin, and related mouse phenotypes are taste/olfaction and renal/urinary system.

Genetics Home Reference:21 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.

Wikipedia:64 Branchio-oto-renal syndrome (BOR), also known as branciootorenal syndrome or BOR syndrome, is an... more...

Related Diseases for Branchiootorenal Syndrome

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

Diseases related to branchiootorenal syndrome

Symptoms for Branchiootorenal Syndrome

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 48 (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 13)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 abnormality of the inner ear typical (50%) HP:0000359
3 preauricular skin tag typical (50%) HP:0000384
4 external ear malformation typical (50%) HP:0008572
5 renal hypoplasia/aplasia typical (50%) HP:0008678
6 multicystic kidney dysplasia occasional (7.5%) HP:0000003
7 vesicoureteral reflux occasional (7.5%) HP:0000076
8 renal insufficiency occasional (7.5%) HP:0000083
9 cleft palate occasional (7.5%) HP:0000175
10 micrognathia occasional (7.5%) HP:0000347
11 atresia of the external auditory canal occasional (7.5%) HP:0000413
12 lacrimation abnormality occasional (7.5%) HP:0000632
13 facial palsy occasional (7.5%) HP:0010628

Drugs & Therapeutics for Branchiootorenal Syndrome

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Drug clinical trials:

Search ClinicalTrials for Branchiootorenal Syndrome

Search NIH Clinical Center for Branchiootorenal Syndrome

Genetic Tests for Branchiootorenal Syndrome

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Genetic tests related to Branchiootorenal Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Fraser Syndrome22

Anatomical Context for Branchiootorenal Syndrome

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MalaCards organs/tissues related to Branchiootorenal Syndrome:

Kidney, Skin

Animal Models for Branchiootorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.2OTX2, SIX1
2MP:00053678.9SIX1, EYA1, NXF1
3MP:00053828.7EYA1, SIX1, OTX2
4MP:00053818.7OTX2, SIX1, EYA1
5MP:00053698.4EYA1, SIX1, SIX5, OTX2
6MP:00053888.4EYA1, SIX1, OTX2
7MP:00053778.4NXF1, EYA1, SIX1, OTX2
8MP:00053868.3OTX2, SIX1, EYA1, NXF1
9MP:00053917.9OTX2, SIX6, SIX5, SIX1, EYA1
10MP:00053797.9EYA1, SIX1, SIX5, SIX6, OTX2
11MP:00036317.7OTX2, SIX6, SIX1, EYA1, NXF1

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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Clinvar genetic disease variations for Branchiootorenal Syndrome:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs)deletionPathogenicrs397517916GRCh37Chr 8, 72156856: 72156856
2EYA1EYA1: c.1361-1G> Tsingle nucleotide variantPathogenicrs397517917GRCh37Chr 8, 72127964: 72127964
3EYA1NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn)single nucleotide variantLikely pathogenicrs397517918GRCh37Chr 8, 72127640: 72127640
4EYA1NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs)insertionPathogenicrs397517919GRCh37Chr 8, 72123391: 72123392
5EYA1NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro)single nucleotide variantLikely pathogenicrs397517920GRCh37Chr 8, 72111606: 72111606
6SIX1NM_005982.3(SIX1): c.317T> G (p.Val106Gly)single nucleotide variantPathogenicrs397515560GRCh37Chr 14, 61115591: 61115591
7SIX1NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs397515561GRCh37Chr 14, 61115574: 61115574
8SIX1NM_005982.3(SIX1): c.50T> A (p.Val17Glu)single nucleotide variantPathogenicrs397515562GRCh37Chr 14, 61115858: 61115858
9EYA1NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)single nucleotide variantPathogenicrs121909195GRCh37Chr 8, 72184037: 72184037
10EYA1EYA1, 1-BP DEL AND 2-BP INS, 1251T-CCindelPathogenic
11EYA1EYA1, ALU INS, EX10insertionPathogenic
12EYA1EYA1, 4-BP DEL, NT1501deletionPathogenic
13EYA1NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)single nucleotide variantPathogenicrs121909196GRCh37Chr 8, 72128968: 72128968
14EYA1EYA1, 1-BP INS, 387TinsertionPathogenic
15EYA1NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)single nucleotide variantPathogenicrs121909200GRCh37Chr 8, 72127865: 72127865
16EYA1NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)single nucleotide variantPathogenicrs121909201GRCh37Chr 8, 72127705: 72127705
17EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
18EYA1EYA1, IVS8DS, G-A, +5single nucleotide variantPathogenic
19SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
20SIX5NM_175875.4(SIX5): c.472G> A (p.Ala158Thr)single nucleotide variantPathogenicrs80356461GRCh37Chr 19, 46271631: 46271631
21SIX5NM_175875.4(SIX5): c.886G> A (p.Ala296Thr)single nucleotide variantPathogenicrs80356462GRCh37Chr 19, 46270331: 46270331
22SIX5NM_175875.4(SIX5): c.1093G> A (p.Gly365Arg)single nucleotide variantPathogenicrs80356463GRCh37Chr 19, 46270124: 46270124
23SIX5NM_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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Pathways related to Branchiootorenal Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SIX1, EYA1

Compounds 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:00056347.6OTX2, SIX6, SIX5, SIX1, EYA1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:00725139.8SIX1, EYA1
2aorta morphogenesisGO:00359099.8SIX1, EYA1
3neuron fate specificationGO:00486659.8SIX1, EYA1
4pharyngeal system developmentGO:00600379.7EYA1, SIX1
5regulation of neuron differentiationGO:00456649.7SIX1, EYA1
6cochlea morphogenesisGO:00901039.7SIX1, EYA1
7middle ear morphogenesisGO:00424749.7SIX1, EYA1
8outflow tract morphogenesisGO:00031519.6EYA1, SIX1
9embryonic skeletal system morphogenesisGO:00487049.6SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:00016589.6SIX1, EYA1
11sensory perception of soundGO:00076059.5SIX1, EYA1
12pattern specification processGO:00073899.4EYA1, SIX1
13inner ear morphogenesisGO:00424729.1OTX2, SIX1
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.4OTX2, SIX1, EYA1

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.6SIX1, SIX5, SIX6
2sequence-specific DNA bindingGO:00435658.0OTX2, SIX6, SIX5, SIX1
3protein bindingGO:00055157.7OTX2, SIX5, SIX1, EYA1, NXF1

Sources for Branchiootorenal Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet