MCID: BRN046
MIFTS: 23

Branchiootorenal Spectrum Disorders malady

Categories: Genetic diseases (common), Nephrological diseases

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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Aliases & Descriptions for Branchiootorenal Spectrum Disorders:

Name: Branchiootorenal Spectrum Disorders 23 24 26
Branchiootorenal Syndrome 24
 
Branchiootic Syndrome 1 67
Branchiootic Syndrome 24

Characteristics:

GeneReviews:

23
Penetrance: based on careful clinical studies of large pedigrees, branchiootorenal spectrum disorders appear to have 100% penetrance, although expressivity is highly variable [chang et al 2004]...


Classifications:



Summaries for Branchiootorenal Spectrum Disorders

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MalaCards based summary: Branchiootorenal Spectrum Disorders, also known as branchiootorenal syndrome, is related to branchiootic syndrome 1 and branchiootorenal syndrome 1, with or without cataracts. An important gene associated with Branchiootorenal Spectrum Disorders is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotypes are endocrine/exocrine gland and muscle.

GeneReviews for NBK1380

Related Diseases for Branchiootorenal Spectrum Disorders

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Graphical network of diseases related to Branchiootorenal Spectrum Disorders:



Diseases related to branchiootorenal spectrum disorders

Symptoms for Branchiootorenal Spectrum Disorders

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Drugs & Therapeutics for Branchiootorenal Spectrum Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiootorenal Spectrum Disorders

Genetic Tests for Branchiootorenal Spectrum Disorders

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Genetic tests related to Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders26 24 SIX5

Anatomical Context for Branchiootorenal Spectrum Disorders

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Animal Models for Branchiootorenal Spectrum Disorders or affiliated genes

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MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.3EYA1, SIX1, SIX5
2MP:00053699.2EYA1, SIX1, SIX5
3MP:00053918.5EYA1, SIX1, SIX5

Publications for Branchiootorenal Spectrum Disorders

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Articles related to Branchiootorenal Spectrum Disorders:

idTitleAuthorsYear
1
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders. (26117063)
2015
2
Branchiootorenal Spectrum Disorders (20301554)
1993

Variations for Branchiootorenal Spectrum Disorders

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Clinvar genetic disease variations for Branchiootorenal Spectrum Disorders:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)SNVPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897

Expression for genes affiliated with Branchiootorenal Spectrum Disorders

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Search GEO for disease gene expression data for Branchiootorenal Spectrum Disorders.

Pathways for genes affiliated with Branchiootorenal Spectrum Disorders

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Pathways related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3EYA1, SIX1

GO Terms for genes affiliated with Branchiootorenal Spectrum Disorders

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Biological processes related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:007251310.0EYA1, SIX1
2middle ear morphogenesisGO:004247410.0EYA1, SIX1
3anatomical structure developmentGO:00488569.9EYA1, SIX1
4pharyngeal system developmentGO:00600379.9EYA1, SIX1
5aorta morphogenesisGO:00359099.9EYA1, SIX1
6otic vesicle developmentGO:00715999.8EYA1, SIX1
7cochlea morphogenesisGO:00901039.8EYA1, SIX1
8pattern specification processGO:00073899.7EYA1, SIX1
9ureteric bud developmentGO:00016579.7EYA1, SIX1
10branching involved in ureteric bud morphogenesisGO:00016589.7EYA1, SIX1
11embryonic skeletal system morphogenesisGO:00487049.7EYA1, SIX1
12outflow tract morphogenesisGO:00031519.6EYA1, SIX1
13inner ear morphogenesisGO:00424729.6EYA1, SIX1
14neuron fate specificationGO:00486659.5EYA1, SIX1
15sensory perception of soundGO:00076059.3EYA1, SIX1
16regulation of neuron differentiationGO:00456649.2EYA1, SIX1
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.5EYA1, SIX1, SIX5

Molecular functions related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.1SIX1, SIX5

Sources for Branchiootorenal Spectrum Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet