BOR
MCID: BRN006
MIFTS: 43

Branchiootorenal Syndrome (BOR) malady

Nephrological diseases category

Summaries for Branchiootorenal Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 SIX5 (SIX homeobox 5). Affiliated tissues include kidney, and related mouse phenotypes are vision/eye and craniofacial.

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

Description from OMIM:46 610896,113650

Aliases & Classifications for Branchiootorenal Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 46OMIM, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

branchiootorenal syndrome 8 42 21 10
melnick-fraser syndrome 8 42 22 21
branchio-oto-renal syndrome 8 21 60
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


External Ids:

Disease Ontology8 DOID:14702
MeSH34 D019280
SNOMED-CT56 205806009, 290006

Related Diseases for Branchiootorenal Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Branchiootorenal Syndrome:



Diseases related to branchiootorenal syndrome

Clinical Features for Branchiootorenal Syndrome

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46OMIM
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Clinical features from OMIM:

610896,113650

Drugs & Therapeutics for Branchiootorenal Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Branchiootorenal Syndrome

Genetic Tests for Branchiootorenal Syndrome

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22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Branchiootorenal Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8EYA1, SIX5, SIX1, SIX6, OTX2
2MP:00053828.6OTX2, SIX1, EYA1, EYA4
3MP:00053888.5OTX2, SIX1, DACH1, EYA1
4MP:00053678.5EYA1, SALL1, SIX1, NXF1
5MP:00053818.4EYA4, EYA1, SALL1, SIX1, OTX2
6MP:00053798.1EYA1, DACH1, SIX5, SIX1, SIX6, OTX2
7MP:00053778.0NXF1, OTX2, SIX1, SALL1, EYA1, EYA4
8MP:00053867.6EYA1, SALL1, DACH1, SIX1, OTX2, NXF1
9MP:00036317.4EYA1, SALL1, DACH1, SIX1, SIX6, OTX2
10MP:00107686.9EYA4, EYA1, SALL1, DACH1, SIX1, OTX2

Publications for Branchiootorenal Syndrome

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50PubMed
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Articles related to Branchiootorenal Syndrome:

idTitleAuthorsYear
1
A different type of branchial fistula as part of a branchiootorenal syndrome. (22325402)
2012
2
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. (19302870)
2009
3
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. (18666230)
2008
4
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. (8092199)
1994
5
Localization of the gene for branchiootorenal syndrome to chromosome 8q. (1478663)
1992
6
The search for branchiootorenal syndrome on chromosomes 1 and 8. (1952608)
1991

Genetic Variations for Branchiootorenal Syndrome

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Expression for genes affiliated with Branchiootorenal Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Branchiootorenal Syndrome

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GO Terms for genes affiliated with Branchiootorenal Syndrome

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16Gene Ontology
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Cellular components related to Branchiootorenal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.2EYA1, SALL1, DACH1, SIX5, SIX1, OTX2
2nucleusGO:0056346.5OTX2, EYA4, EYA1, SALL1, DACH1, SIX5

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:07251310.1SIX1, EYA1
2aorta morphogenesisGO:03590910.1SIX1, EYA1
3neuron fate specificationGO:04866510.1SIX1, EYA1
4pharyngeal system developmentGO:06003710.1EYA1, SIX1
5regulation of neuron differentiationGO:04566410.0EYA1, SIX1
6cochlea morphogenesisGO:09010310.0SIX1, EYA1
7outer ear morphogenesisGO:04247310.0SALL1, EYA1
8outflow tract morphogenesisGO:00315110.0SIX1, EYA1
9embryonic skeletal system morphogenesisGO:04870410.0EYA1, SIX1
10ureteric bud developmentGO:0016579.8SALL1, SIX1
11pattern specification processGO:0073899.8SIX1, EYA1
12inner ear morphogenesisGO:0424729.8OTX2, SIX1
13branching involved in ureteric bud morphogenesisGO:0016589.6EYA1, SALL1, SIX1
14kidney developmentGO:0018229.5SALL1, SIX1
15middle ear morphogenesisGO:0424749.5SIX1, EYA1, EYA4
16sensory perception of soundGO:0076059.5EYA4, EYA1, SIX1
17positive regulation of transcription, DNA-dependentGO:0458939.2OTX2, SIX1, SALL1
18anatomical structure morphogenesisGO:0096539.2EYA1, EYA4
19positive regulation of transcription from RNA polymerase II promoterGO:0459449.1EYA1, SALL1, SIX1, OTX2
20transcription, DNA-dependentGO:0063518.5EYA4, EYA1, SALL1, SIX5, SIX1

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine phosphatase activityGO:0047259.5EYA1, EYA4
2sequence-specific DNA bindingGO:0435658.7SIX5, SIX1, SIX6, OTX2
3sequence-specific DNA binding transcription factor activityGO:0037008.5OTX2, SIX6, SIX1, SIX5, SALL1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet