MCID: BRN046
MIFTS: 25

Branchiootorenal Spectrum Disorders malady

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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Aliases & Descriptions for Branchiootorenal Spectrum Disorders:

Name: Branchiootorenal Spectrum Disorders 22 23 25
Branchio-Oto-Renal Syndrome 66
Branchiootorenal Syndrome 23
 
Branchiootic Syndrome 1 66
Branchiootic Syndrome 23

Classifications:



Summaries for Branchiootorenal Spectrum Disorders

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MalaCards based summary: Branchiootorenal Spectrum Disorders, also known as branchio-oto-renal syndrome, is related to branchiootic syndrome 1 and branchiootorenal syndrome. An important gene associated with Branchiootorenal Spectrum Disorders is SIX5 (SIX Homeobox 5), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotypes are muscle and vision/eye.

GeneReviews summary 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 Disorders25 23 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7EYA1, SIX1, SIX5
2MP:00053918.5EYA1, SIX1, SIX5
3MP:00053798.2EYA1, 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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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
19.1EYA1, 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:00725139.8EYA1, SIX1
2pharyngeal system developmentGO:00600379.8EYA1, SIX1
3middle ear morphogenesisGO:00424749.8EYA1, SIX1
4anatomical structure developmentGO:00488569.7EYA1, SIX1
5aorta morphogenesisGO:00359099.6EYA1, SIX1
6otic vesicle developmentGO:00715999.6EYA1, SIX1
7cochlea morphogenesisGO:00901039.6EYA1, SIX1
8outflow tract morphogenesisGO:00031519.5EYA1, SIX1
9neuron fate specificationGO:00486659.5EYA1, SIX1
10ureteric bud developmentGO:00016579.5EYA1, SIX1
11branching involved in ureteric bud morphogenesisGO:00016589.4EYA1, SIX1
12sensory perception of soundGO:00076059.4EYA1, SIX1
13pattern specification processGO:00073899.4EYA1, SIX1
14inner ear morphogenesisGO:00424729.3EYA1, SIX1
15embryonic skeletal system morphogenesisGO:00487049.1EYA1, SIX1
16regulation of neuron differentiationGO:00456649.0EYA1, 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:00009789.3SIX1, SIX5

Sources for Branchiootorenal Spectrum Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet