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 21 22 24
Branchio-Oto-Renal Syndrome 65
Branchiootorenal Syndrome 22
 
Branchiootic Syndrome 1 65
Branchiootic Syndrome 22

Classifications:



External Ids:

UMLS65 C1865143

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 endocrine/exocrine gland and muscle.

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 Disorders22 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:00053798.6EYA1, SIX1, SIX5
2MP:00053698.5EYA1, SIX1, SIX5
3MP:00053918.4EYA1, 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 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:00725139.7EYA1, SIX1
2anatomical structure developmentGO:00488569.7EYA1, SIX1
3neuron fate specificationGO:00486659.6EYA1, SIX1
4cochlea morphogenesisGO:00901039.5EYA1, SIX1
5pharyngeal system developmentGO:00600379.5EYA1, SIX1
6aorta morphogenesisGO:00359099.4EYA1, SIX1
7outflow tract morphogenesisGO:00031519.4EYA1, SIX1
8positive regulation of transcription, DNA-templatedGO:00458939.3EYA1, SIX1
9ureteric bud developmentGO:00016579.2EYA1, SIX1
10inner ear morphogenesisGO:00424729.1EYA1, SIX1
11sensory perception of soundGO:00076059.1EYA1, SIX1

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