BOR
MCID: BRN006
MIFTS: 46

Branchiootorenal Syndrome (BOR) malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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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 renal agenesis and branchiootorenal spectrum disorders. An important gene associated with Branchiootorenal Syndrome is EYA1 (eyes absent homolog 1 (Drosophila)), and among its related pathways is Transcriptional misregulation in cancer. Affiliated tissues include kidney, 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:65 Branchio-oto-renal syndrome (BOR), also known as branciootorenal syndrome or BOR syndrome, is an... more...

Descriptions from OMIM:46 113650,610896

Aliases & Classifications for Branchiootorenal Syndrome

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Branchiootorenal Syndrome, Aliases & Descriptions:

Name: Branchiootorenal Syndrome 8 42 21 10
Melnick-Fraser Syndrome 8 42 22 21
Branchio-Oto-Renal Syndrome 8 21 62
Branchiootorenal Dysplasia 8 42 21
Bor Syndrome 42 21 44
 
Branchio-Otorenal Dysplasia 8 21
Branchio Oto Renal Syndrome 42
Branchio-Otorenal Syndrome 21
Bor 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

Disease Ontology8 DOID:14702
SNOMED-CT57 290006, 205806009
MeSH34 D019280

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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Clinical features from OMIM:

113650,610896

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:

32
Kidney

Animal Models for Branchiootorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3SIX1, OTX2
2MP:00053679.0NXF1, EYA1, SIX1
3MP:00053828.8OTX2, EYA1, SIX1
4MP:00053818.8OTX2, SIX1, EYA1
5MP:00053888.5OTX2, SIX1, EYA1
6MP:00053778.5NXF1, EYA1, SIX1, OTX2
7MP:00053698.4SIX1, SIX5, OTX2, EYA1
8MP:00053868.4EYA1, SIX1, OTX2, NXF1
9MP:00053917.9OTX2, SIX6, SIX5, SIX1, EYA1
10MP:00053797.9EYA1, SIX1, SIX5, SIX6, OTX2
11MP:00036317.8NXF1, SIX6, EYA1, OTX2, SIX1

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:

6 (show all 11)
id Gene Name 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
3SIX1NM_005982.3(SIX1): c.317T> G (p.Val106Gly)single nucleotide variantPathogenicrs397515560GRCh37Chr 14, 61115591: 61115591
4SIX1NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)single nucleotide variantPathogenicrs397515561GRCh37Chr 14, 61115574: 61115574
5SIX1NM_005982.3(SIX1): c.50T> A (p.Val17Glu)single nucleotide variantPathogenicrs397515562GRCh37Chr 14, 61115858: 61115858
6EYA1NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)single nucleotide variantPathogenicrs121909195GRCh37Chr 8, 72184037: 72184037
7EYA1NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)single nucleotide variantPathogenicrs121909196GRCh37Chr 8, 72128968: 72128968
8EYA1NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)single nucleotide variantPathogenicrs121909200GRCh37Chr 8, 72127865: 72127865
9EYA1NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)single nucleotide variantPathogenicrs121909201GRCh37Chr 8, 72127705: 72127705
10EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
11SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522

Expression for genes affiliated with Branchiootorenal Syndrome

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Expression patterns in normal tissues for genes affiliated with Branchiootorenal Syndrome

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Pathways for genes affiliated with Branchiootorenal Syndrome

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Pathways related to Branchiootorenal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SIX1, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.6OTX2, SIX6, SIX5, SIX1, EYA1

Biological processes related to Branchiootorenal Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.9SIX1, EYA1
2aorta morphogenesisGO:0359099.9SIX1, EYA1
3neuron fate specificationGO:0486659.9SIX1, EYA1
4pharyngeal system developmentGO:0600379.9EYA1, SIX1
5regulation of neuron differentiationGO:0456649.8SIX1, EYA1
6cochlea morphogenesisGO:0901039.8SIX1, EYA1
7middle ear morphogenesisGO:0424749.8SIX1, EYA1
8outflow tract morphogenesisGO:0031519.8EYA1, SIX1
9embryonic skeletal system morphogenesisGO:0487049.7SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.7SIX1, EYA1
11sensory perception of soundGO:0076059.6SIX1, EYA1
12pattern specification processGO:0073899.5EYA1, SIX1
13inner ear morphogenesisGO:0424729.2OTX2, SIX1
14positive regulation of transcription from RNA polymerase II promoterGO:0459448.5OTX2, SIX1, EYA1

Molecular functions related to Branchiootorenal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.6SIX6, SIX1, SIX5
2sequence-specific DNA bindingGO:0435658.0SIX1, SIX5, SIX6, OTX2
3protein bindingGO:0055157.7SIX1, SIX5, NXF1, OTX2, EYA1

Products for genes affiliated with Branchiootorenal Syndrome

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Sources for Branchiootorenal Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet