BOS1
MCID: BRN042
MIFTS: 25

Branchiootic Syndrome (BOS1) malady

Genetic diseases, Rare diseases categories

Summaries for Branchiootic Syndrome

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Sources:
34MalaCards
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MalaCards: Branchiootic Syndrome, also known as branchiootic syndrome 1, is related to branchiootorenal spectrum disorders and branchiootic syndrome 2. An important gene associated with Branchiootic Syndrome is EYA1 (eyes absent homolog 1 (Drosophila)), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Branchiootic Syndrome

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Sources:
44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

branchiootic syndrome 44 23
branchiootic syndrome 1 63
branchiootic dysplasia 44
bo syndrome 1 44
bos1 44


Related Diseases for Branchiootic Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Branchiootic Syndrome:



Diseases related to branchiootic syndrome

Symptoms for Branchiootic Syndrome

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Drugs & Therapeutics for Branchiootic Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Branchiootic Syndrome

Drug clinical trials:

Search ClinicalTrials for Branchiootic Syndrome

Search NIH Clinical Center for Branchiootic Syndrome

Search CenterWatch for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

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23GTR
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Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome23

Anatomical Context for Branchiootic Syndrome

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Animal Models for Branchiootic Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Branchiootic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0SIX1, EYA1

Publications for Branchiootic Syndrome

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53PubMed
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Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
1
Branchiootic syndrome--a clinical case report and review of the literature. (22901925)
2012
2
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. (16813606)
2006

Variations for Branchiootic Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Branchiootic Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897

Expression for genes affiliated with Branchiootic Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Branchiootic Syndrome

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Pathways for genes affiliated with Branchiootic Syndrome

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Sources:
51PathCards, 31KEGG
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Pathways related to Branchiootic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SIX1, EYA1

Compounds for genes affiliated with Branchiootic Syndrome

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GO Terms for genes affiliated with Branchiootic Syndrome

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17Gene Ontology
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Biological processes related to Branchiootic Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.3SIX1, EYA1
2aorta morphogenesisGO:0359099.3SIX1, EYA1
3neuron fate specificationGO:0486659.3SIX1, EYA1
4pharyngeal system developmentGO:0600379.3EYA1, SIX1
5regulation of neuron differentiationGO:0456649.2SIX1, EYA1
6cochlea morphogenesisGO:0901039.2SIX1, EYA1
7middle ear morphogenesisGO:0424749.2EYA1, SIX1
8outflow tract morphogenesisGO:0031519.1SIX1, EYA1
9embryonic skeletal system morphogenesisGO:0487049.1SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.0EYA1, SIX1
11positive regulation of transcription from RNA polymerase II promoterGO:0459449.0SIX1, EYA1
12pattern specification processGO:0073898.9SIX1, EYA1
13sensory perception of soundGO:0076058.7SIX1, EYA1

Products for genes affiliated with Branchiootic Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Branchiootic Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet