BOS1
MCID: BRN042
MIFTS: 27

Branchiootic Syndrome (BOS1) malady

Genetic diseases, Rare diseases, Ear diseases, Fetal diseases categories
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Summaries for Branchiootic Syndrome

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MalaCards based summary: Branchiootic Syndrome, also known as branchiootic syndrome 1, is related to branchiootic syndrome 1 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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Branchiootic Syndrome, Aliases & Descriptions:

Name: Branchiootic Syndrome 42 22
Branchiootic Syndrome 1 62
Branchiootic Dysplasia 42
 
Bo Syndrome 1 42
Bos1 42


Classifications:

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


Related Diseases for Branchiootic Syndrome

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Diseases in the Branchiootic Syndrome 1 family:

branchiootic syndrome Branchiootic Syndrome 2

Diseases related to Branchiootic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1branchiootic syndrome 110.4
2branchiootic syndrome 210.4
3brachiootic syndrome 310.2SIX1
4microtia10.1
5branchiootorenal syndrome 1, with or without cataracts10.1
6branchiootorenal spectrum disorders9.9SIX1, EYA1
7lacrimal duct obstruction9.9SIX1, EYA1
8primary hyperoxaluria9.8EYA1, SIX1
9chronic kidney failure9.8SIX1, EYA1
10branchiootorenal syndrome9.8EYA1, SIX1
11renal agenesis9.7SIX1, EYA1

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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Drug clinical trials:

Search ClinicalTrials for Branchiootic Syndrome

Search NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

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Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome22

Anatomical Context for Branchiootic Syndrome

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Animal Models for Branchiootic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0SIX1, EYA1

Publications for Branchiootic Syndrome

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Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
1
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. (24933236)
2014
2
Branchiootic syndrome--a clinical case report and review of the literature. (22901925)
2012
3
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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Clinvar genetic disease variations for Branchiootic Syndrome:

6
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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Expression patterns in normal tissues for genes affiliated with Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for genes affiliated with Branchiootic Syndrome

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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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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

Sources for Branchiootic 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