BOS1
MCID: BRN042
MIFTS: 25

Branchiootic Syndrome (BOS1) malady

Genetic diseases, Rare diseases categories
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Summaries for Branchiootic Syndrome

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33MalaCards
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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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43NIH Rare Diseases, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

branchiootic syndrome 43 22
branchiootic syndrome 1 62
branchiootic dysplasia 43
bo syndrome 1 43
bos1 43


Related Diseases for Branchiootic Syndrome

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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37MGI
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MGI Mouse Phenotypes related to Branchiootic Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0SIX1, EYA1

Publications for Branchiootic Syndrome

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52PubMed
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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, 15Gene 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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50PathCards, 30KEGG
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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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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet