MCID: BRN046
MIFTS: 23

Branchiootorenal Spectrum Disorders malady

Genetic diseases, Nephrological diseases, Rare diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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Aliases & Descriptions for Branchiootorenal Spectrum Disorders:

Name: Branchiootorenal Spectrum Disorders 21 22 24
Branchiootorenal Syndrome 22
 
Branchiootic Syndrome 22


Classifications:



Summaries for Branchiootorenal Spectrum Disorders

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MalaCards based summary: Branchiootorenal Spectrum Disorders, also known as branchiootorenal syndrome, is related to branchiootorenal syndrome 1, with or without cataracts and branchiootorenal syndrome. 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 summary for bor

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 Disorders22 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5EYA1, SIX1, SIX5
2MP:00053698.4EYA1, SIX1, SIX5
3MP:00053918.2EYA1, 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
1EYA1EYA1, 2-BP INS, 870GTinsertionPathogenic
2EYA1EYA1, 8-BP DEL, NT297deletionPathogenic
3EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
4EYA1NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs)deletionPathogenicrs606231356GRCh38Chr 8, 71215477: 71215483

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 pathways (with members indented)ScoreTop 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 18)
idNameGO IDScoreTop Affiliating Genes
1neuron fate specificationGO:004866510.0EYA1, SIX1
2middle ear morphogenesisGO:004247410.0EYA1, SIX1
3positive regulation of secondary heart field cardioblast proliferationGO:007251310.0EYA1, SIX1
4aorta morphogenesisGO:003590910.0EYA1, SIX1
5pharyngeal system developmentGO:006003710.0EYA1, SIX1
6anatomical structure developmentGO:00488569.9EYA1, SIX1
7pattern specification processGO:00073899.8EYA1, SIX1
8regulation of neuron differentiationGO:00456649.8EYA1, SIX1
9embryonic skeletal system morphogenesisGO:00487049.8EYA1, SIX1
10ureteric bud developmentGO:00016579.7EYA1, SIX1
11branching involved in ureteric bud morphogenesisGO:00016589.7EYA1, SIX1
12cochlea morphogenesisGO:00901039.7EYA1, SIX1
13outflow tract morphogenesisGO:00031519.6EYA1, SIX1
14sensory perception of soundGO:00076059.4EYA1, SIX1
15inner ear morphogenesisGO:00424729.4EYA1, SIX1
16otic vesicle developmentGO:00715999.3EYA1, SIX1
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.5EYA1, SIX1, SIX5
18regulation of transcription, DNA-templatedGO:00063558.2EYA1, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet