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 23 24 27
Branchiootorenal Syndrome 24
 
Branchiootic Syndrome 1 68
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 branchiootorenal syndrome and branchiootic syndrome 1. 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 Increased Nanog expression and endocrine/exocrine gland.

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 & Phenotypes for Branchiootorenal Spectrum Disorders

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GenomeRNAi Phenotypes related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00371-A-59.9EYA1, SIX1

MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.3EYA1, SIX1, SIX5
2MP:00053699.2EYA1, SIX1, SIX5
3MP:00053918.5EYA1, SIX1, SIX5

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 Disorders27 24 SIX5

Anatomical Context for Branchiootorenal Spectrum Disorders

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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 18)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure developmentGO:00488569.9EYA1, SIX1
2aorta morphogenesisGO:00359099.9EYA1, SIX1
3branching involved in ureteric bud morphogenesisGO:00016589.9EYA1, SIX1
4cochlea morphogenesisGO:00901039.9EYA1, SIX1
5embryonic skeletal system morphogenesisGO:00487049.9EYA1, SIX1
6inner ear morphogenesisGO:00424729.9EYA1, SIX1
7middle ear morphogenesisGO:00424749.9EYA1, SIX1
8neuron fate specificationGO:00486659.8EYA1, SIX1
9otic vesicle developmentGO:00715999.8EYA1, SIX1
10outflow tract morphogenesisGO:00031519.8EYA1, SIX1
11pattern specification processGO:00073899.8EYA1, SIX1
12pharyngeal system developmentGO:00600379.8EYA1, SIX1
13positive regulation of secondary heart field cardioblast proliferationGO:00725139.8EYA1, SIX1
14regulation of neuron differentiationGO:00456649.7EYA1, SIX1
15sensory perception of soundGO:00076059.6EYA1, SIX1
16multicellular organism developmentGO:00072759.2EYA1, SIX1, SIX5
17ureteric bud developmentGO:00016579.1EYA1, SIX1
18positive regulation of transcription from RNA polymerase II promoterGO:00459449.1EYA1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet