MCID: BRN046
MIFTS: 23

Branchiootorenal Spectrum Disorders malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Branchiootorenal Spectrum Disorders

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Sources:
20GeneReviews, 34MalaCards
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MalaCards: Branchiootorenal Spectrum Disorders, also known as branchiootic syndrome 1, is related to six5-related branchiootorenal spectrum disorders and eya1-related branchiootorenal spectrum disorders. 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 hearing/vestibular/ear and vision/eye.

GeneReviews summary for bor

Aliases & Classifications for Branchiootorenal Spectrum Disorders

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20GeneReviews, 21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


Aliases & Descriptions:

branchiootorenal spectrum disorders 20 21 23
branchiootic syndrome 1 63


Related Diseases for Branchiootorenal Spectrum Disorders

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Branchiootorenal Spectrum Disorders

Drug clinical trials:

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Search NIH Clinical Center for Branchiootorenal Spectrum Disorders

Search CenterWatch for Branchiootorenal Spectrum Disorders

Genetic Tests for Branchiootorenal Spectrum Disorders

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21GeneTests, 23GTR
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Genetic tests related to Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders21 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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38MGI
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MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1SIX1, EYA1
2MP:00053918.5SIX5, SIX1, EYA1
3MP:00053698.4EYA1, SIX1, SIX5
4MP:00053798.2SIX5, SIX1, EYA1

Publications for Branchiootorenal Spectrum Disorders

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53PubMed
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Articles related to Branchiootorenal Spectrum Disorders:

idTitleAuthorsYear
1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Branchiootorenal Spectrum Disorders

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Pathways for genes affiliated with Branchiootorenal Spectrum Disorders

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51PathCards, 31KEGG
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Pathways related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SIX1, EYA1

Compounds for genes affiliated with Branchiootorenal Spectrum Disorders

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GO Terms for genes affiliated with Branchiootorenal Spectrum Disorders

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Sources:
17Gene Ontology
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Biological processes related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.4SIX1, EYA1
2aorta morphogenesisGO:0359099.4SIX1, EYA1
3neuron fate specificationGO:0486659.4SIX1, EYA1
4pharyngeal system developmentGO:0600379.4EYA1, SIX1
5regulation of neuron differentiationGO:0456649.4SIX1, EYA1
6cochlea morphogenesisGO:0901039.3SIX1, EYA1
7middle ear morphogenesisGO:0424749.3SIX1, EYA1
8outflow tract morphogenesisGO:0031519.3EYA1, SIX1
9embryonic skeletal system morphogenesisGO:0487049.2SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.2SIX1, EYA1
11pattern specification processGO:0073899.1SIX1, EYA1
12positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SIX1, EYA1
13sensory perception of soundGO:0076059.0EYA1, SIX1
14transcription, DNA-templatedGO:0063518.2SIX5, SIX1, EYA1

Molecular functions related to Branchiootorenal Spectrum Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.0SIX5, SIX1

Products for genes affiliated with Branchiootorenal Spectrum Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Branchiootorenal Spectrum Disorders

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet