MCID: BRC061
MIFTS: 30

Brachiootic Syndrome 3 malady

Ear diseases, Fetal diseases categories

Summaries for Brachiootic Syndrome 3

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46OMIM, 32MalaCards
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MalaCards: Brachiootic Syndrome 3, also known as branchio-otic syndrome, is related to branchiootorenal spectrum disorders and lacrimal duct obstruction, and has symptoms including branchial/posterior auricular/preauricular/cheek cysts/fistulae, cleft palate without cleft lip/submucosal cleft palate/bifid uvula and lip pits/fistulae. An important gene associated with Brachiootic Syndrome 3 is SIX1 (SIX homeobox 1), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotype hearing/vestibular/ear.

Description from OMIM:46 608389,120502,602588

Aliases & Classifications for Brachiootic Syndrome 3

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Related Diseases for Brachiootic Syndrome 3

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17GeneCards, 18GeneDecks
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Diseases related to Brachiootic Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1branchiootorenal spectrum disorders10.0SIX1, EYA1
2lacrimal duct obstruction10.0SIX1, EYA1
3primary hyperoxaluria10.0EYA1, SIX1
4chronic kidney failure10.0SIX1, EYA1
5branchiootorenal syndrome10.0SIX1, EYA1
6renal agenesis10.0SIX1, EYA1

Graphical network of diseases related to Brachiootic Syndrome 3:



Diseases related to brachiootic syndrome 3

Clinical Features for Brachiootic Syndrome 3

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46OMIM, 48Orphanet
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Clinical features from OMIM:

608389,120502,602588

Symptoms:

48 (show all 18)
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • lip pits/fistulae
  • defect/anomaly of lacrimal system
  • micrognathia/retrognathia/micrognathism/retrognathism
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • facial palsy
  • branchial fistulae of the neck
  • conductive deafness/hearing loss
  • sensorineural deafness/hearing loss
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • external auditory canal atresia/stenosis/agenesis
  • external ear anomalies
  • autosomal dominant inheritance
  • dermoid sinus/dimple/pit (excluding sacral)
  • hearing loss/hypoacusia/deafness
  • preauricular/branchial tags/appendages

Drugs & Therapeutics for Brachiootic Syndrome 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Brachiootic Syndrome 3

Genetic Tests for Brachiootic Syndrome 3

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Anatomical Context for Brachiootic Syndrome 3

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Animal Models for Brachiootic Syndrome 3 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brachiootic Syndrome 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1SIX1, EYA1

Publications for Brachiootic Syndrome 3

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Genetic Variations for Brachiootic Syndrome 3

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Brachiootic Syndrome 3:

62
id Symbol AA change Variation ID SNP ID
1SIX1p.Arg110TrpVAR_031024
2SIX1p.Tyr129CysVAR_031025
3SIX1p.Val17GluVAR_064948
4SIX1p.His73ProVAR_064949
5SIX1p.Val106GlyVAR_064950
6SIX1p.Arg110GlnVAR_064951
7SIX1p.Arg112CysVAR_064952
8SIX1p.Trp122ArgVAR_064953

Expression for genes affiliated with Brachiootic Syndrome 3

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachiootic Syndrome 3

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Pathways for genes affiliated with Brachiootic Syndrome 3

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29KEGG
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Pathways related to Brachiootic Syndrome 3 according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Brachiootic Syndrome 3

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GO Terms for genes affiliated with Brachiootic Syndrome 3

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16Gene Ontology
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Biological processes related to Brachiootic Syndrome 3 according to GeneCards/GeneDecks:

(show all 13)
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:0456649.3EYA1, SIX1
6cochlea morphogenesisGO:0901039.3EYA1, SIX1
7middle ear morphogenesisGO:0424749.3EYA1, SIX1
8outflow tract morphogenesisGO:0031519.2SIX1, EYA1
9embryonic skeletal system morphogenesisGO:0487049.2SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.1EYA1, SIX1
11positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SIX1, EYA1
12pattern specification processGO:0073899.0SIX1, EYA1
13sensory perception of soundGO:0076058.8SIX1, EYA1

Products for genes affiliated with Brachiootic Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachiootic Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet